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Peng Z, Wang X, Li J, Sun J, Wang Y, Li Y, Li W, Zhang S, Wang X, Pei Z. Comparative bibliometric analysis of artificial intelligence-assisted polyp diagnosis and AI-assisted digestive endoscopy: trends and growth in AI gastroenterology (2003-2023). Front Med (Lausanne) 2024; 11:1438979. [PMID: 39359927 PMCID: PMC11445022 DOI: 10.3389/fmed.2024.1438979] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/27/2024] [Accepted: 09/02/2024] [Indexed: 10/04/2024] Open
Abstract
Introduction Artificial intelligence is already widely utilized in gastroenterology. This study aims to comprehensively evaluate the research hotspots and development trends within the field of AI in gastroenterology by employing bibliometric techniques to scrutinize geographical distribution, authorship, affiliated institutions, keyword usage, references, and other pertinent data contained within relevant publications. Methods This investigation compiled all pertinent publications related to artificial intelligence in the context of gastrointestinal polyps and digestive endoscopy from 2003 to 2023 within the Web of Science Core Collection database. Furthermore, the study harnessed the tools CiteSpace, VOSviewer, GraphPad Prism and Scimago Graphica for visual data analysis. The study retrieved a total of 2,394 documents in the field of AI in digestive endoscopy and 628 documents specifically related to AI in digestive tract polyps. Results The United States and China are the primary contributors to research in both fields. Since 2019, studies on AI for digestive tract polyps have constituted approximately 25% of the total AI digestive endoscopy studies annually. Six of the top 10 most-cited studies in AI digestive endoscopy also rank among the top 10 most-cited studies in AI for gastrointestinal polyps. Additionally, the number of studies on AI-assisted polyp segmentation is growing the fastest, with significant increases in AI-assisted polyp diagnosis and real-time systems beginning after 2020. Discussion The application of AI in gastroenterology has garnered increasing attention. As theoretical advancements in AI for gastroenterology have progressed, real-time diagnosis and detection of gastrointestinal diseases have become feasible in recent years, highlighting the promising potential of AI in this field.
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Affiliation(s)
- Ziye Peng
- Medical School, Tianjin University, Tianjin, China
| | - Xiangyu Wang
- Medical School, Tianjin University, Tianjin, China
| | - Jiaxin Li
- Medical School, Tianjin University, Tianjin, China
| | - Jiayi Sun
- Department of Endoscopy, Tianjin Union Medical Center, Tianjin, China
| | - Yuwei Wang
- Department of Endoscopy, Tianjin Union Medical Center, Tianjin, China
| | - Yanru Li
- Department of Endoscopy, Tianjin Union Medical Center, Tianjin, China
| | - Wen Li
- Department of Endoscopy, Tianjin Union Medical Center, Tianjin, China
| | - Shuyi Zhang
- Department of Endoscopy, Tianjin Union Medical Center, Tianjin, China
| | - Ximo Wang
- Tianjin Third Central Hospital, Tianjin, China
| | - Zhengcun Pei
- Medical School, Tianjin University, Tianjin, China
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Lemos Garcia J, Rosa I, Pereira da Silva J, Lage P, Claro I. Endoscopic Approach to Duodenal Adenomas in Familial Adenomatous Polyposis: A Retrospective Cohort. GE PORTUGUESE JOURNAL OF GASTROENTEROLOGY 2023; 30:430-436. [PMID: 38476155 PMCID: PMC10928868 DOI: 10.1159/000527209] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 05/15/2022] [Accepted: 08/17/2022] [Indexed: 03/14/2024]
Abstract
Introduction Over 90% of the patients with familial adenomatous polyposis (FAP) will develop duodenal adenomas. Aim The aim of this study was to evaluate the effectiveness and safety of endoscopic excision of large duodenal adenomas in FAP patients. Methods All FAP patients from a familial risk clinic submitted to endoscopic therapy for duodenal adenomas ≥10 mm between January 2010 and February 2021 were included. Results From 151 FAP families, 22 patients (50 lesions) were included: 54.5% female; median follow-up 8.5 (IQR: 5.8-12.3) years after the first endoscopy. First therapeutic endoscopy occurred at a median age of 41.0 years (IQR: 33.0-58.2). Repeat therapeutic endoscopy was required in 54.5% of patients. Median size of the largest adenoma was 15 mm (IQR: 10-18 mm); resection was piecemeal in 63.1% and en bloc in the remaining. In 2 cases, the resection was incomplete (fibrosis due to previous resection and difficult positioning). Complications occurred in 6.3% of the resected lesions (4 patients): 2 immediate (bleeding, perforation); 4 in the first week (1 bleeding, 2 mild pancreatitis, 1 perforation requiring surgery; the latter two after ampullectomy). Histology revealed low-grade dysplasia adenomas in 90.1%; no adenocarcinomas were found. One patient with Spigelman stage IV disease not amenable to endoscopic control underwent elective duodenopancreatectomy (without duodenal cancer). Conclusion Endoscopic surveillance and treatment of duodenal adenomas in FAP patients was safe and effective in the prevention of duodenal cancer.
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Affiliation(s)
- Joana Lemos Garcia
- Gastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
| | - Isadora Rosa
- Gastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
- Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
| | - João Pereira da Silva
- Gastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
| | - Pedro Lage
- Gastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
- Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
| | - Isabel Claro
- Gastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
- Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E., Lisboa, Portugal
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Nakahira H, Takeuchi Y, Shimamoto Y, Ishiguro S, Yunokizaki H, Ezoe Y, Fujisawa F, Ishihara R, Takayama T, Yoshida T, Mutoh M, Ishikawa H. Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis. Hered Cancer Clin Pract 2023; 21:25. [PMID: 38012770 PMCID: PMC10683362 DOI: 10.1186/s13053-023-00264-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/28/2022] [Accepted: 10/03/2023] [Indexed: 11/29/2023] Open
Abstract
BACKGROUND Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, and the relative risk for duodenal cancer compared with the general population is high. We conducted a retrospective study to investigate the progression of non-ampullary duodenal adenomas (NADAs) and risk factors for advanced lesions in patients with FAP. METHODS Of 248 patients with 139 pedigrees at 2 institutes, we assessed 151 patients with 100 pedigrees with a pathogenic germline variant in the adenomatous polyposis coli gene, excluding mosaic variants. We evaluated the prevalence of NADAs in patients with FAP, the progression of these adenomas to advanced adenoma during the observation period, and the risk factors for the lifetime development of high-grade dysplasia (HGD), large (≥ 10 mm) duodenal adenomas, and Spiegelman stage IV. RESULTS During the median observation period of 7 years, the incidences of patients with NADAs, with more than 20 polyps, with polyps ≥ 10 mm, with HGD, and with stage IV at the last esophagogastroduodenoscopy were increased 1.6-fold, 1.7-fold, 5-fold, 22-fold, and 9-fold, respectively. Intramucosal cancer occurred in three patients (2%), but no patients developed invasive cancer during the observation period because we performed endoscopic intervention for advanced adenomas. Stage progression was observed in 71% of 113 patients. Stage IV was more common in women, patients with a history of colectomy, and those with a 3' side mutation in their adenomatous polyposis coli gene. CONCLUSIONS NADAs in patients with FAP frequently become exacerbated. Our findings suggest that patients with FAP who develop duodenal adenomas should be surveyed to prevent the development of duodenal cancer.
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Affiliation(s)
| | - Yoji Takeuchi
- Department of Gastrointestinal Oncology, Osaka, Japan.
- Department of Genetic Oncology, Division of Hereditary Tumors, Osaka International Cancer Institute, Osaka, Japan.
- Department of Gastroenterology and Hepatology, Gunma University Graduate School of Medicine, 3-39-15, Showa-machi, 371-8511, Maebashi, Gunma, Japan.
| | | | | | | | | | - Fumie Fujisawa
- Department of Genetic Oncology, Division of Hereditary Tumors, Osaka International Cancer Institute, Osaka, Japan
| | - Ryu Ishihara
- Department of Gastrointestinal Oncology, Osaka, Japan
| | - Tetsuji Takayama
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan
| | - Teruhiko Yoshida
- Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan
| | - Michihiro Mutoh
- Department of Molecular-Targeting Cancer Prevention, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
| | - Hideki Ishikawa
- Ishikawa Gastroenterology Clinic, Osaka, Japan
- Department of Molecular-Targeting Cancer Prevention, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
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El Bakouri A, El Wassi A, Eddaoudi Y, Bouali M, ElHattabi K, Bensardi F, Fadil A. Early Discovery Of Small Bowel Adenocarcinoma In a Patient Admitted For 4 Acute Intestinal Intussusception case report. Ann Med Surg (Lond) 2022; 82:104776. [PMID: 36268363 PMCID: PMC9577972 DOI: 10.1016/j.amsu.2022.104776] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/14/2022] [Revised: 09/18/2022] [Accepted: 09/19/2022] [Indexed: 11/29/2022] Open
Abstract
Introduction Malignant tumours of the small bowel are uncommon in clinical practice. Adenocarcinoma is the most common of these tumours, accounting for approximately 35–45% of all tumours. It may occur sporadically, in association with familial adenomatous polyposis coli or Peutz-Jeghers syndrome or hereditary non-polyposis colorectal cancer, or in association with chronic inflammatory bowel changes (such as Crohn's disease or celiac disease). Materials and methods We report a case of Early Discovery Of Small Bowel Adenocarcinoma In A Patient Admitted For 4 Acute Intestinal Intussusception in the department of Emergency visceral surgery P35 of the ibn rochd hospital in casablanca. Results Our patient was admitted to the emergency room for sub-occlusive syndrome with generalized abdominal pain of chronic appearance dating back to one month before his admission With Abdominal and pelvic ultrasound showed: intestinal parietal thickening and minimal ascites (peritoneal and/or intestinal tuberculosis? Crohn's disease) The patient underwent an abdominal-pelvic CT scan which showed: Presence of diffuse small bowel thickening, involving several small intestines and the colonic angle with intestinal invaginations (at least 3) suspecting an inflammatory or tumoral origin? To be compared with histological data and infiltration of the mesenteric fat in the sub-umbilical region with a peritoneal effusion in the Douglas. the patient was operated on in the emergency room, approached by laparotomy and found on exploration: Presence of 3 invaginations in the small intestine located at 20cm and 90cm from the Duodenojejunal Angle (DIA) as well as at 25cm from the Last part of the small intestine (DAI), with Presence of a colonic invagination at the level of the left colonic angle. the patient underwent 3 small bowel resections and one segmental colonic resection including segmental small bowel resections: the 1st one of 30 cm taking away an invagination of the small intestine at 20cm from the ADJ, the 2nd one taking away 60cm of invaginated located at 90cm from the ADJ the 3rd one taking away 20cm of invaginated located at 25cm from the DAI and a 4th resection taking away an invagination of the left colonic angle with 3 Anastomosis of the T-T small intestine and a transverse Colostomy in Bouilley Volkman. On examination by the anapathomopathologist: consistent with a small bowel tumour: well-differentiated intestinal adenocarcinoma on degenerated adenomatous polyps measuring 2.5cm and 1.7cm with an estimated 10% mucinous component with no vascular emboli and no peri-nervous sheathing. TNM stage p: pT2 with healthy resection margins in the left colon: Presence of a tubular adenoma with low grade dysplasia. Conclusion The most common symptoms of adenocarcinoma of the small bowel are obstruction, overt or covert bleeding, weight loss and jaundice. Because the small bowel has long been relatively inaccessible to routine endoscopy, the diagnosis of small bowel adenocarcinoma was often delayed for several months after the onset of symptoms. Therefore, in case of suspicion of this type of cancer, a thorough evaluation should be undertaken. Nowadays, endoscopy of the small bowel is widely available, allowing an earlier non-invasive diagnosis.
Acute Intestinal Intussusception as a cause of intestinal obstruction is often a diagnostic challenge mimicking a wide spectrum of diseases. Malignant tumours of the small bowel are uncommon in clinical practice. Adenocarcinoma is the most common of these tumours. Its diagnosis is still very difficult. The treatment of Acute Intestinal Intussusception is in most cases surgical. The diagnosis of Acute Intestinal Intussusception is histological.
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Hopper AD. Role of endoscopy in patients with familial adenomatous polyposis. Frontline Gastroenterol 2022; 13:e72-e79. [PMID: 35812028 PMCID: PMC9234724 DOI: 10.1136/flgastro-2022-102125] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/29/2022] [Accepted: 05/03/2022] [Indexed: 02/04/2023] Open
Abstract
Familial adenomatous polyposis (FAP) is a hereditary disease that, without intervention, will cause nearly all patients to develop colorectal cancer by the age of 45. However, even after prophylactic colorectal surgery the eventual development of duodenal adenomas leads to an additional risk of duodenal and ampullary cancers. Endoscopy is an essential part of the multidisciplinary management of FAP to aid the early identification or prevention of advanced gastrointestinal malignancy. This review article details the current evidence and consensus guidance available regarding the role of endoscopic surveillance and treatment strategies for FAP.
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Affiliation(s)
- Andrew D Hopper
- Department of Infection, Immunity and Cardiovascular Disease, Sheffield University, and Academic Department of Gastroenterology Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
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Sekaran A, Dey D, Singh A, Das P. Pathology of Malignant Lesions of the Gastrointestinal Tract. SURGICAL PATHOLOGY OF THE GASTROINTESTINAL SYSTEM 2022:699-782. [DOI: 10.1007/978-981-16-6395-6_17] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2025]
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Duarte M, Milikowski C. Gastrointestinal polyposis with associated cutaneous manifestations. Pathology 2021; 54:157-166. [PMID: 34763900 DOI: 10.1016/j.pathol.2021.08.009] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/15/2021] [Accepted: 08/23/2021] [Indexed: 02/06/2023]
Abstract
Cutaneous findings are commonly associated with underlying gastrointestinal disorders and, in many instances, may be the first manifestation. Many such syndromes have incomplete penetrance and variable expressivity, making them difficult to recognise. Skin manifestations may be an easily recognised feature of the underlying disorder. Most of these syndromes are hereditary but not all are associated with malignancies; either benign or premalignant extraintestinal lesions can be the initial manifestation. Some involve a single organ system, while others involve multiple organs of the gastrointestinal tract. In this review, we have focused on Lynch syndrome (hereditary nonpolyposis colon cancer and Muir-Torre syndrome), familial adenomatous polyposis, the hamartomatous polyposis syndromes that include Peutz-Jeghers syndrome and the PTEN hamartoma syndromes, which include Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome and, lastly, Cronkhite-Canada syndrome, which is not heritable. Some of these are associated with colorectal cancer, of which 15% are heritable. The majority are inherited in an autosomal dominant fashion. These syndromes are uncommon. However, because of the strong association with the cutaneous findings, early detection and screening may be possible and are key to decreasing the morbidity and mortality associated with them, for both the patient and family members. The clinical findings, epidemiological findings, underlying genetic alterations and pathological findings are reviewed.
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Affiliation(s)
- Melissa Duarte
- Department of Pathology, Jackson Memorial Hospital/University of Miami Miller School of Medicine, Miami, FL, USA
| | - Clara Milikowski
- Department of Pathology, Jackson Memorial Hospital/University of Miami Miller School of Medicine, Miami, FL, USA.
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8
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Soons E, Bisseling TM, van Kouwen MCA, Möslein G, Siersema PD. Endoscopic management of duodenal adenomatosis in familial adenomatous polyposis-A case-based review. United European Gastroenterol J 2021; 9:461-468. [PMID: 34529357 PMCID: PMC8259240 DOI: 10.1002/ueg2.12071] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/08/2020] [Accepted: 12/14/2020] [Indexed: 12/18/2022] Open
Abstract
Adenomatous polyposis (AP) diseases, including familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH‐associated polyposis (MAP), are the second most common hereditary causes of colorectal cancer. A frequent extra‐colonic manifestation of AP disease is duodenal polyposis, which may lead to duodenal cancer in up to 18% of AP patients. Endoscopic surveillance is recommended at 0.5‐ to 5‐year intervals depending on the extent of polyp growth and histological progression. Although the Spigelman classification is traditionally used to determine surveillance intervals, it lacks information on the (peri‐)ampullary site, where 50% of duodenal carcinomas are located. Hence, information on the papilla has recently been added as a prognostic marker. Patients with duodenal adenoma(s) ≥10 mm and ampullary adenomas of any size are suggested to be referred to an expert center for endoscopic therapy, particularly endoscopic mucosal resection and endoscopic ampullectomy. Nonetheless, despite the logic of this approach, the long‐term efficacy of endoscopic therapy is still to be demonstrated.
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Affiliation(s)
- E Soons
- Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, The Netherlands
| | - T M Bisseling
- Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, The Netherlands
| | - M C A van Kouwen
- Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, The Netherlands
| | - G Möslein
- Center for Hereditary Tumors, Helios University Hospital Wuppertal, University of Witten-Herdecke, Wuppertal, Germany
| | - P D Siersema
- Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, The Netherlands
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Sekiya M, Sakamoto H, Yano T, Miyahara S, Nagayama M, Kobayashi Y, Shinozaki S, Sunada K, Lefor AK, Yamamoto H. Double-balloon endoscopy facilitates efficient endoscopic resection of duodenal and jejunal polyps in patients with familial adenomatous polyposis. Endoscopy 2021; 53:517-521. [PMID: 32464675 DOI: 10.1055/a-1189-9550] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
Abstract
BACKGROUND : Many patients with familial adenomatous polyposis (FAP) have adenomatous polyps of the duodenum and the jejunum. We aimed to elucidate the long-term outcomes after double-balloon endoscopy (DBE)-assisted endoscopic resection of duodenal and jejunal polyps in patients with FAP. METHODS : We retrospectively reviewed patients who underwent more than two sessions of endoscopic resection using DBE from August 2004 to July 2018. RESULTS : A total of 72 DBEs were performed in eight patients (median age 30 years, range 12-53; 1.4 DBE procedures/patient-year) during the study period, and 1237 polyps were resected. The median observation period was 77.5 months (range 8-167). There were 11 adverse events, including seven delayed bleeds and four episodes of acute pancreatitis. No delayed bleeding occurred after cold polypectomy. Although, in one patient, one endoscopically resected duodenal polyp was diagnosed as being intramucosal carcinoma, none of the patients developed an advanced duodenal or jejunal cancer during the study period. CONCLUSIONS : Endoscopic resection of duodenal and jejunal polyposis using DBE in patients with FAP can be performed safely, efficiently, and effectively.
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Affiliation(s)
- Mariko Sekiya
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
| | - Hirotsugu Sakamoto
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
| | - Tomonori Yano
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
| | - Shoko Miyahara
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
| | - Manabu Nagayama
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
| | - Yasutoshi Kobayashi
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
| | - Satoshi Shinozaki
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan.,Shinozaki Medical Clinic, Utsunomiya, Japan
| | - Keijiro Sunada
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
| | | | - Hironori Yamamoto
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke, Japan
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Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 2020; 69:411-444. [PMID: 31780574 PMCID: PMC7034349 DOI: 10.1136/gutjnl-2019-319915] [Citation(s) in RCA: 276] [Impact Index Per Article: 55.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/20/2019] [Revised: 10/25/2019] [Accepted: 11/05/2019] [Indexed: 12/12/2022]
Abstract
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
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Affiliation(s)
- Kevin J Monahan
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - Nicola Bradshaw
- Clinical Genetics, West of Scotland Genetics Services, Glasgow, Glasgow, UK
| | - Sunil Dolwani
- Gastroenterology, Cardiff and Vale NHS Trust, Cardiff, UK
| | - Bianca Desouza
- Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK
| | | | - James E East
- Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK
- Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
| | - Mohammad Ilyas
- Faculty of Medicine & Health Sciences, Nottingham University, Nottingham, UK
| | - Asha Kaur
- Head of Policy and Campaigns, Bowel Cancer UK, London, UK
| | - Fiona Lalloo
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
| | | | - Matthew D Rutter
- Gastroenterology, University Hospital of North Tees, Stockton-on-Tees, UK
- Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK
| | - Ian Tomlinson
- Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, Birmingham, UK
- Cancer Research Centre, University of Edinburgh, Edinburgh, UK
| | - Huw J W Thomas
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - James Hill
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
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Taggart MW, Foo WC, Lee SM. Tumors of the Gastrointestinal System Including the Pancreas. ONCOLOGICAL SURGICAL PATHOLOGY 2020:691-870. [DOI: 10.1007/978-3-319-96681-6_12] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/06/2025]
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12
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Screening for colorectal cancer after pancreatoduodenectomy for ampullary cancer. Eur J Surg Oncol 2019; 46:534-538. [PMID: 31668981 DOI: 10.1016/j.ejso.2019.10.013] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/11/2019] [Revised: 08/11/2019] [Accepted: 10/10/2019] [Indexed: 11/21/2022] Open
Abstract
BACKGROUND In some Dutch pancreatic surgery centers, patients who underwent pancreatoduodenectomy (PD) for ampullary cancer undergo surveillance for colorectal cancer (CRC), since an association is suggested in contemporary literature. This study aimed to examine the CRC incidence after PD for ampullary cancer in four pancreatic surgery centers and a Dutch nationwide cohort. METHODS All patients who underwent resection of ampullary cancer from 2005 through 2017 at four centers were included. All colonoscopies and CRC diagnoses in these patients were recorded. In addition all PDs for ampullary cancer in the Dutch Pathology Registry (2000-2017) were recorded along with the CRC diagnoses and compared with an age, sex, and year-matched cohort. RESULTS Out of 287 included patients by the four centers, 11% underwent a colonoscopy within one year after PD. Eight (2.7%) were diagnosed with CRC before PD and two (0.7%), at 14 and 72 months after PD. In the nationwide cohort comparison, the CRC incidence was similar before (2.6% versus 1.9%, P = 0.424) and after surgery (2.1% versus 3.1%, P = 0.237). Within one year after PD, the incidence was 0.3% compared to 0.6% in the matched controls (P = 0.726). CONCLUSIONS The current study could not find an increased risk of CRC in patients with resected ampullary cancer. Therefore, there is insufficient justification to screen for CRC in patients with resected ampullary cancer.
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Barsouk A, Rawla P, Barsouk A, Thandra KC. Epidemiology of Cancers of the Small Intestine: Trends, Risk Factors, and Prevention. Med Sci (Basel) 2019; 7:E46. [PMID: 30884915 PMCID: PMC6473503 DOI: 10.3390/medsci7030046] [Citation(s) in RCA: 31] [Impact Index Per Article: 5.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/22/2019] [Revised: 03/14/2019] [Accepted: 03/14/2019] [Indexed: 12/24/2022] Open
Abstract
The latest data from the United States and Europe reveal that rare small intestine cancer is on the rise, with the number of cases having more than doubled over the past 40 years in the developed world. Mortality has grown at a slower pace, thanks to improvements in early diagnosis and treatment, as well as a shift in the etiology of neoplasms affecting the small intestine. Nevertheless, 5-year survival for small intestine adenocarcinomas has lingered at only 35%. Lifestyle in developed nations, including the rise in obesity and physical inactivity, consumption of alcohol, tobacco, and red and processed meats, and occupational exposures may be to blame for the proliferation of this rare cancer. Identification of hereditary and predisposing conditions, likely to blame for some 20% of cases, may help prevent and treat cancers of the small intestine. Studies of the neoplasm have been limited by small sample sizes due to the rarity of the disease, leaving many questions about prevention and treatment yet to be answered.
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Affiliation(s)
- Adam Barsouk
- Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA 15232, USA.
| | - Prashanth Rawla
- Department of Medicine, Sovah Health, Martinsville, VA 24112, USA.
| | - Alexander Barsouk
- Hematologist-Oncologist, Allegheny Health Network, Pittsburgh, PA 15212, USA.
| | - Krishna Chaitanya Thandra
- Department of Pulmonary and Critical Care Medicine, Sentara Virginia Beach General Hospital, Virginia Beach, VA 23454, USA.
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Iemoto T, Sanuki T, Ose T, Yoshie T, Tanaka K, Sasaki A, Abe S, Abe T, Miki M, Futai R, Inoue Y. Acute Pancreatitis Caused by Ampullary Duodenum Adenoma in a Patient with Adenomatous Polyposis Coli with Billroth II Reconstruction After Distal Gastrectomy. AMERICAN JOURNAL OF CASE REPORTS 2018; 19:1495-1498. [PMID: 30552312 PMCID: PMC6320568 DOI: 10.12659/ajcr.912248] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
Abstract
Patient: Male, 73 Final Diagnosis: Pancreatitis Symptoms: Upper abdominal pain Medication: — Clinical Procedure:— Specialty: Gastroenterology and Hepatology
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Affiliation(s)
- Takao Iemoto
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Tsuyoshi Sanuki
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Takayuki Ose
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Tomoo Yoshie
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Katsuhide Tanaka
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Ayaka Sasaki
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Shohei Abe
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Tetsuyuki Abe
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Mika Miki
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Ryoko Futai
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
| | - Yuta Inoue
- Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan
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Delker DA, Wood AC, Snow AK, Samadder NJ, Samowitz WS, Affolter KE, Boucher KM, Pappas LM, Stijleman IJ, Kanth P, Byrne KR, Burt RW, Bernard PS, Neklason DW. Chemoprevention with Cyclooxygenase and Epidermal Growth Factor Receptor Inhibitors in Familial Adenomatous Polyposis Patients: mRNA Signatures of Duodenal Neoplasia. Cancer Prev Res (Phila) 2018; 11:4-15. [PMID: 29109117 PMCID: PMC5754246 DOI: 10.1158/1940-6207.capr-17-0130] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2017] [Revised: 08/31/2017] [Accepted: 10/02/2017] [Indexed: 12/20/2022]
Abstract
To identify gene expression biomarkers and pathways targeted by sulindac and erlotinib given in a chemoprevention trial with a significant decrease in duodenal polyp burden at 6 months (P < 0.001) in familial adenomatous polyposis (FAP) patients, we biopsied normal and polyp duodenal tissues from patients on drug versus placebo and analyzed the RNA expression. RNA sequencing was performed on biopsies from the duodenum of FAP patients obtained at baseline and 6-month endpoint endoscopy. Ten FAP patients on placebo and 10 on sulindac and erlotinib were selected for analysis. Purity of biopsied polyp tissue was calculated from RNA expression data. RNAs differentially expressed between endpoint polyp and paired baseline normal were determined for each group and mapped to biological pathways. Key genes in candidate pathways were further validated by quantitative RT-PCR. RNA expression analyses of endpoint polyp compared with paired baseline normal for patients on placebo and drug show that pathways activated in polyp growth and proliferation are blocked by this drug combination. Directly comparing polyp gene expression between patients on drug and placebo also identified innate immune response genes (IL12 and IFNγ) preferentially expressed in patients on drug. Gene expression analyses from tissue obtained at endpoint of the trial demonstrated inhibition of the cancer pathways COX2/PGE2, EGFR, and WNT. These findings provide molecular evidence that the drug combination of sulindac and erlotinib reached the intended tissue and was on target for the predicted pathways. Furthermore, activation of innate immune pathways from patients on drug may have contributed to polyp regression. Cancer Prev Res; 11(1); 4-15. ©2017 AACRSee related editorial by Shureiqi, p. 1.
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Affiliation(s)
- Don A Delker
- Department of Internal Medicine, University of Utah, Salt Lake City, Utah
| | - Austin C Wood
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
| | - Angela K Snow
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
| | - N Jewel Samadder
- Department of Internal Medicine, University of Utah, Salt Lake City, Utah
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
| | - Wade S Samowitz
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
- Department of Pathology, University of Utah, Salt Lake City, Utah
| | - Kajsa E Affolter
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
- Department of Pathology, University of Utah, Salt Lake City, Utah
| | - Kenneth M Boucher
- Department of Internal Medicine, University of Utah, Salt Lake City, Utah
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
| | - Lisa M Pappas
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
| | - Inge J Stijleman
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
| | - Priyanka Kanth
- Department of Internal Medicine, University of Utah, Salt Lake City, Utah
| | - Kathryn R Byrne
- Department of Internal Medicine, University of Utah, Salt Lake City, Utah
| | - Randall W Burt
- Department of Internal Medicine, University of Utah, Salt Lake City, Utah
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
| | - Philip S Bernard
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
- Department of Pathology, University of Utah, Salt Lake City, Utah
| | - Deborah W Neklason
- Department of Internal Medicine, University of Utah, Salt Lake City, Utah.
- Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
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Campos FG, Martinez CAR, Bustamante Lopez LA, Kanno DT, Nahas SC, Cecconello I. Advanced duodenal neoplasia and carcinoma in familial adenomatous polyposis: outcomes of surgical management. J Gastrointest Oncol 2017; 8:877-884. [PMID: 29184692 DOI: 10.21037/jgo.2017.09.03] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/14/2022] Open
Abstract
Background In addition to the presence of neoplasia in the colon and rectum, patients with familial adenomatous polyposis (FAP) may develop numerous polyps and carcinoma within the upper gastrointestinal tract. Methods The aim of the present paper was to review the incidence advanced duodenal polyposis or cancer and their surgical outcomes. A retrospective review of patients' records from our department was performed. Information was retrieved from a prospective collected data, including clinical (gender, age, family history), endoscopic [association with colorectal cancer (CRC), polyposis severity, age at diagnosis] and surgical management (age, time from the index surgery, type of procedure, morbidity). Duodenal adenomatosis at the time of surgery was classified according to Spigelman stages. Results In a group of 145 FAP patients, 8 (5.5%) had been surgically treated for duodenal advanced neoplasia [3] or cancer [5]. There were included 2 women and 6 men whose first endoscopic examination and diagnosis of advanced neoplasia/cancer was made at median ages of 47.3 [28-63] and 51.8 years, respectively. Duodenal carcinomas occurred later (55.8 years) when compared to advanced adenomatosis (45.3 years). Three patients were diagnosed due to symptoms, while the others were detected under endoscopic surveillance. Age interval between FAP treatment and duodenal neoplasia diagnosis was 15.3 years [0-47]. All but one patient underwent duodenopancreatectomy (DP). Two from the 7 patients undergoing DP died, one from pulmonary embolism 30 days after surgery and the other from recurrent T4N0 duodenal tumor. Thus, major operative morbidity and mortality were 12.5%. Conclusions In this single-center Brazilian series of FAP patients: (I) advanced duodenal neoplasia or cancer requiring surgery occurred in 5.5% of patients; (II) when reaching the fifth decade of life, patients should be carefully evaluated to diagnose and treat early lesions; (III) in spite of the technical complexity of DP, operative morbidity is acceptable in experienced hands; and (IV) continuous surveillance is necessary during follow-up.
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Affiliation(s)
- Fábio Guilherme Campos
- Gastroenterology Department, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil
| | | | | | | | - Sérgio Carlos Nahas
- Gastroenterology Department, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil
| | - Ivan Cecconello
- Gastroenterology Department, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil
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de Latour RA, Kilaru SM, Gross SA. Management of small bowel polyps: A literature review. Best Pract Res Clin Gastroenterol 2017; 31:401-408. [PMID: 28842049 DOI: 10.1016/j.bpg.2017.06.003] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/27/2017] [Accepted: 06/25/2017] [Indexed: 02/07/2023]
Abstract
Despite the small bowel comprising 90% of the mucosal surface area of the gastrointestinal tract, it is a rare site for neoplasia and only accounts for a little over 3% of the tumors that arise in the digestive tract. Benign small bowel lesions include lipomas, lymphangiomas, leiomyomas, neurofibromas, nodular lymphoid hyperplasia and adenomas, many of which are precursors to malignant lesions. Several polyposis syndromes are associated with small bowel polyps as well, including familial adenomatous polyposis syndrome, lynch syndrome, Peutz-Jeghers syndrome, Cowden syndrome and juvenile polyposis syndrome. Our aim was to review non-malignant small bowel polyps and discuss the prevalence, typical location, clinical presentation, diagnosis, endoscopic and histologic description and lastly management of each of these lesions.
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Affiliation(s)
- Rabia A de Latour
- New York University School of Medicine, Department of Gastroenterology, 240 East 38th Street, 23rd Floor, New York, NY 10016, USA.
| | - Saikiran M Kilaru
- New York University School of Medicine, Department of Gastroenterology, 240 East 38th Street, 23rd Floor, New York, NY 10016, USA.
| | - Seth A Gross
- New York University School of Medicine, Department of Gastroenterology, 240 East 38th Street, 23rd Floor, New York, NY 10016, USA.
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18
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Lynch PM. HISTORY OF HEREDITARY NONPOLYPOSIS COLORECTAL CANCER OR “LYNCH SYNDROME”. REVISTA MÉDICA CLÍNICA LAS CONDES 2017. [DOI: 10.1016/j.rmclc.2017.07.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2022] Open
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Lynch PM. HISTORIA DEL CÁNCER COLORRECTAL HEREDITARIO NO POLIPÓSICO (HNPCC). REVISTA MÉDICA CLÍNICA LAS CONDES 2017. [DOI: 10.1016/j.rmclc.2017.07.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
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20
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Fang JY, Shi YQ, Chen YX, Li JN, Sheng JQ. Chinese consensus on the prevention of colorectal cancer (2016, Shanghai). J Dig Dis 2017; 18:63-83. [PMID: 28102562 DOI: 10.1111/1751-2980.12450] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
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Abstract
Small bowel adenocarcinomas (SBAs) are rare tumors, but their incidence is increasing. The most common primary location is the duodenum. Even though SBAs are more often sporadic, some diseases are risk factors. Early diagnosis of small bowel adenocarcinoma remains difficult, despite significant radiologic and endoscopic progress. After R0 surgical resection, the main prognostic factor is lymph node invasion. An international randomized trial (BALLAD [Benefit of Adjuvant Chemotherapy For Small Bowel Adenocarcinoma] study) will evaluate the benefit of adjuvant chemotherapy. For metastatic disease, retrospectives studies suggest that platinum-based chemotherapy is the most effective treatment. Phase II studies are ongoing to evaluate targeted therapy in metastatic SBA.
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Affiliation(s)
- Thomas Aparicio
- Gastroenterology and Digestive Oncology Unit, Avicenne Hospital, HUPSSD, APHP, Université Paris 13, Sorbonne Paris Cité, 125 rue de Stalingrad, Bobigny 93000, France.
| | - Aziz Zaanan
- Gastroenterology and Digestive Oncology Unit, Georges Pompidou Hospital, APHP, Paris Descartes University, 20 Rue Leblanc, Paris 75015, France
| | - Florence Mary
- Gastroenterology and Digestive Oncology Unit, Avicenne Hospital, HUPSSD, APHP, Université Paris 13, Sorbonne Paris Cité, 125 rue de Stalingrad, Bobigny 93000, France
| | - Pauline Afchain
- Oncology Unit, Saint Antoine Hospital, APHP, 184 Rue du Faubourg Saint-Antoine, Paris 75012, France
| | - Sylvain Manfredi
- Hepato-Gastroenterology Unit, Dijon Hospital, 14 rue Paul Gaffarel, Dijon 21079, France
| | - Thomas Ronald Jeffry Evans
- Translational Cancer Therapeutics department, The Beatson West of Scotland Cancer Centre, University of Glasgow, 1053 Great Western Road, Glasgow G12 0YN, UK
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Walton SJ, Kallenberg FGJ, Clark SK, Dekker E, Latchford A. Frequency and Features of Duodenal Adenomas in Patients With MUTYH-Associated Polyposis. Clin Gastroenterol Hepatol 2016; 14:986-92. [PMID: 26905905 DOI: 10.1016/j.cgh.2016.02.020] [Citation(s) in RCA: 28] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/03/2015] [Revised: 01/28/2016] [Accepted: 02/08/2016] [Indexed: 02/07/2023]
Abstract
BACKGROUND & AIMS MUTYH-associated polyposis (MAP) is similar to familial adenomatous polyposis (FAP), in that it increases the risk for duodenal adenomas and cancer. Almost all patients with FAP develop duodenal adenomas and 5% develop duodenal cancer. Little is known about the prevalence of duodenal adenomas and cancer in patients with MAP, but current surveillance recommendations are the same for patients with FAP-they should begin surveillance when they are 25 years old. We aimed to assess the prevalence, extent, and progression of duodenal adenomas in patients with MAP and evaluate upper gastrointestinal tract surveillance recommendations. METHODS In a retrospective study, we collected data on all patients (n = 92) with MAP undergoing surveillance esophagogastroduodenoscopy from registries at St Mark's Hospital (London, UK) and the Academic Medical Center (Amsterdam, The Netherlands) from 2002 through 2014. We collected information on adenoma development, age at adenoma detection, interventions, and disease progression. RESULTS Duodenal adenomas were detected in 31 patients (34%), at a median age of 50 years. When duodenal polyposis first was detected, it was Spigelman stages I or II in 84% of patients; most had few small polyps, without high-grade dysplasia or villous features. Subsequent esophagogastroduodenoscopy evaluation of 18 of these patients found that 14 (78%) had Spigelman stages 0 to II disease (median follow-up period, 7.8 y). Disease progressed in stage in 6 patients, over 9.5 years, because of lesion size or villous features (2 reached stage IV disease). Adenomas were down-staged in 8 patients after biopsy or polypectomy analyses, and were unchanged for 3 patients. CONCLUSIONS In a data analysis from 92 patients with MAP, duodenal polyposis seemed to develop less frequently than in patients with FAP, and developed at a later age. Increasing lesion size and villous change appear to promote adenoma progression, rather than polyp number or dysplasia. It may be time to consider a new staging system for patients with MAP, to better determine disease severity and surveillance strategies.
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Affiliation(s)
- Sarah-Jane Walton
- The Polyposis Registry, St Mark's Hospital, Harrow, United Kingdom; Department of Surgery and Cancer, Imperial College London, United Kingdom.
| | - Frank G J Kallenberg
- Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands
| | - Susan K Clark
- The Polyposis Registry, St Mark's Hospital, Harrow, United Kingdom; Department of Surgery and Cancer, Imperial College London, United Kingdom
| | - Evelien Dekker
- Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands
| | - Andrew Latchford
- The Polyposis Registry, St Mark's Hospital, Harrow, United Kingdom
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Assessing barriers to a rational chemoprevention trial design in young patients with familial adenomatous polyposis. Eur J Cancer Prev 2016; 26:277-284. [PMID: 27128580 DOI: 10.1097/cej.0000000000000256] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Abstract
Familial adenomatous polyposis coli (FAP) is an autosomal dominant condition caused by a germline mutation in the adenomatous polyposis coli gene. Colonic adenomas form and almost all patients will develop colorectal cancer if they are not managed at an early stage. The safest preventive strategy is surgical resection of the colon, most commonly performed in late teenage years. There is a paucity of trials investigating the use of primary chemoprevention to delay polyp formation in paediatric FAP. There are extensive preclinical and early clinical data demonstrating that curcumin may be a safe and effective chemotherapeutic agent in reducing the polyp burden in this disease. We ultimately proposed to design and conduct a clinical study to assess whether curcumin treatment delays the need for surgery and/or prevents cancer in young patients with FAP. Research into clinical trial protocols has demonstrated that assessing patients' perceptions at the initial stage leads to better outcomes. We therefore conducted a questionnaire study of patients and parents of children affected by FAP to gain information to aid the protocol design. Results demonstrated that there are some FAP patients for whom this study is relevant and desirable. Those with a personal history of curcumin use reported that it was well tolerated. However, the response rate was poor (25%), indicating that there are potential difficulties ensuring adequate recruitment to the proposed trial. This report draws on lessons learnt from prior trials and the findings from the questionnaire to outline the challenges faced in designing such a study.
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Progression and Management of Duodenal Neoplasia in Familial Adenomatous Polyposis: A Cohort Study. Ann Surg 2016; 261:1138-44. [PMID: 24950262 DOI: 10.1097/sla.0000000000000734] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
Abstract
OBJECTIVE To describe the natural history and outcomes of surveillance of duodenal neoplasia in familial adenomatous polyposis (FAP). BACKGROUND Duodenal cancer is the most common cause of death in FAP. METHODS Cohort study of patients prospectively enrolled in an upper endoscopic surveillance protocol from 1982 to 2012. The duodenum was assessed by side-viewing endoscopy and classified as stage 1 to 5 disease. Endoscopic and/or operative interventions were performed according to stage. RESULTS There were 218 patients in the protocol (98 with advanced stage). They had a median of 9 endoscopies (range: 2-25) over a median of 11 years (range: 1-26). Median age at diagnosis of stage 3 disease (adenoma: 2.1-10 mm) was 41 years and stage 4 disease (adenoma >10 mm) was 45 years. Median time from first esophagogastroduodenoscopy to stage 4 disease was 22.4 years. The risk of stage 4 disease was 34.3% [95% confidence interval (CI) 23.8-43.4] at 15 years. In multivariate analysis, sex, type of colorectal surgery, years since colorectal surgery, and stage were significantly associated with risk of progression to stage 4 disease. Five of 218 (2.3%) patients developed duodenal cancer at median age of 58 years (range: 51-65). The risk of developing duodenal cancer was 2.1% (95% CI: 0-5.2) at 15 years. CONCLUSIONS Patients with advanced duodenal polyposis progress in the severity of disease (size and degree of dysplasia); however, the rate of progression to carcinoma is slow. Aggressive endoscopic and surgical intervention, especially in the presence of large polyps and high-grade dysplasia, appears to be effective in preventing cancer deaths in FAP.
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Advanced small bowel adenocarcinoma: Molecular characteristics and therapeutic perspectives. Clin Res Hepatol Gastroenterol 2016; 40:154-60. [PMID: 26547136 DOI: 10.1016/j.clinre.2015.09.008] [Citation(s) in RCA: 29] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/19/2015] [Revised: 08/29/2015] [Accepted: 09/23/2015] [Indexed: 02/04/2023]
Abstract
Small bowel cancer represents less than 5% of all gastrointestinal cancers, while small bowel adenocarcinoma (SBA) accounts for about one third of all cancers of the small bowel. Although SBA frequently appears sporadically, some diseases are risk factors, such as Crohn's disease and some genetic predispositions to cancer. Progress in the identification of molecular alterations suggests some similarities in carcinogenesis between SBA and colorectal cancer. Evidence levels for the treatment and prognosis of these tumors are insufficient because of the scarcity of this disease and the absence of randomized trials. Chemotherapy based on fluoropyrimidine plus a platinum salt appears to be the most effective treatment regimen in non-randomized prospective trials for advanced SBA. Targeted therapy, against the angiogenic pathway or the epidermal growth factor receptor (EGFR) pathway, for example, is not yet established, but seems promising given the over-expression of vascular epithelial growth factor (VEGF)-A or EGFR observed in SBA. Phase I and II studies are currently evaluating the safety and efficacy of these targeted therapies in SBA treatment. The low incidence of SBA should promote the development of international collaborations to improve our knowledge of the biological mechanisms underlying these tumors and to set up therapeutic trials.
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Espinel J, Pinedo E, Ojeda V, Rio MGD. Endoscopic management of adenomatous ampullary lesions. World J Methodol 2015; 5:127-135. [PMID: 26413485 PMCID: PMC4572025 DOI: 10.5662/wjm.v5.i3.127] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/02/2015] [Revised: 03/30/2015] [Accepted: 06/19/2015] [Indexed: 02/06/2023] Open
Abstract
Lesions of the ampulla of Vater represent an uncommon group of gastrointestinal malignancies. The majority of lesions of the ampulla of Vater are either adenomas or adenocarcinomas. Ampullary lesions are often incidental findings. Accurate preoperative diagnosis and staging of ampullary tumors is imperative for predicting prognosis and determining the most appropriate therapeutic approach. Endoscopic ampullectomy is a safe and efficacious therapeutic procedure that can obviate the need for potentially major surgical intervention. This review will provide the framework for the diagnosis and management of ampullary lesions from the perspective of the practicing gastroenterologist. Strategies for safe and successful endoscopic ampullectomy with a focus on accurate preoperative diagnosis and staging, resection technique, and management of complications are presented.
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Gluck N, Strul H, Rozner G, Leshno M, Santo E. Endoscopy and EUS are key for effective surveillance and management of duodenal adenomas in familial adenomatous polyposis. Gastrointest Endosc 2015; 81:960-6. [PMID: 25440680 DOI: 10.1016/j.gie.2014.08.029] [Citation(s) in RCA: 23] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/30/2014] [Accepted: 08/26/2014] [Indexed: 02/08/2023]
Abstract
BACKGROUND Patients with familial adenomatous polyposis (FAP) are prone to developing duodenal adenoma and cancer. Optimal surveillance and management of these adenomas are not well established. OBJECTIVE We assessed the outcome of FAP patients undergoing intense multimodal surveillance and subsequent endoscopic resection of advanced lesions. PATIENTS Eighty consecutive FAP patients enrolled during 2001 to 2011 from the Familial Cancer Clinic of a tertiary hospital as part of routine surveillance. DESIGN Case series, prospective in years 2006 to 2011 and retrospective in years 2001 to 2006. SETTING AND INTERVENTION Patients were followed by annual forward-view and/or side-view upper endoscopy. A biopsy sample was obtained from visible lesions and normal papillae. Ampullary adenomas were further assessed by EUS to determine dimensions and resectability. Advanced adenomas (size ≥ 10 mm, villous type, high-grade dysplasia) underwent endoscopic ampullectomy or polypectomy and continued surveillance. MAIN OUTCOME MEASUREMENTS Detection of advanced adenomas by endoscopy and EUS, endoscopic maintenance of duodenum free of advanced adenoma and cancer. RESULTS Patients (38 men and 42 women, mean age 32.68 ± 13.60) were followed 7.2 years and underwent 5.36 diagnostic studies on average. Thirty-eight patients had ampullary adenomas. Advanced adenoma was diagnosed by endoscopy in 10 patients. Importantly, EUS upstaged 9 additional patients to advanced adenoma and downstaged 1, thus altering the treatment course in 36% of patients performing EUS. Endoscopic ampullectomy was performed in 15 patients. Adenoma recurred in 10. Five remained nonadvanced and 5 in advanced stages: 3 were successfully retreated endoscopically and 2 ultimately required surgery for residual adenoma. Advanced nonampullary adenomas were successfully resected endoscopically in 23 patients. No patient had duodenal cancer during the study period. LIMITATIONS Limited follow-up period, young age group, uncontrolled study. CONCLUSIONS In an intense surveillance program for FAP patients, both endoscopy and EUS were key in accurate selection of advanced adenomas for endoscopic resection. During a 10-year period, only 2 patients required elective surgery and no cancer was observed.
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Affiliation(s)
- Nathan Gluck
- Tel Aviv Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Hana Strul
- Tel Aviv Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Guy Rozner
- Tel Aviv Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Moshe Leshno
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Erwin Santo
- Tel Aviv Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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Aschmoneit-Messer I, Richl J, Pohl J, Ell C, May A. Prospective study of acute complication rates and associated risk factors in endoscopic therapy for duodenal adenomas. Surg Endosc 2014; 29:1823-30. [PMID: 25380706 DOI: 10.1007/s00464-014-3871-5] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/05/2014] [Accepted: 09/02/2014] [Indexed: 12/17/2022]
Abstract
BACKGROUND Endoscopic therapy for duodenal adenomas is becoming increasingly important. However, only a few studies have been published on the topic, mainly with retrospective data. METHODS This prospective study was carried out to determine complication rates and associated risk factors during and after endoscopic therapy for duodenal adenomas. Between May 2011 and October 2012, 50 patients (with 61 duodenal adenomas) were included. Sixty-one duodenal adenomas were resected endoscopically. Complications (e.g., bleeding, pain, fever, pancreatitis, and perforation) were recorded. Associations between bleeding and other factors--sex, age, anticoagulation, location and size of adenomas, etiology, lesion morphology, resection type, and argon plasma coagulation (APC) for bleeding prophylaxis--were then investigated. RESULTS Bleeding was the main complication. Major bleeding occurred in four cases (6.5%) and minor bleeding in 11 (18%). One occult perforation also occurred. There was a statistically significant association between bleeding and the size of the adenoma (P = 0.012). APC for bleeding prophylaxis showed a promising trend, with an odds ratio of 0.31, reducing the bleeding risk by two-thirds in this study. However, due to the small number of six patients that received bleeding prophylaxis with APC therapy, this result was not statistically significant (P = 0.31). CONCLUSIONS Bleeding is the main complication in endoscopic therapy for duodenal adenomas. The bleeding risk increases significantly with adenoma size. Prophylactic APC seems to reduce the bleeding rate--however, because of the relatively small number of patients treated with APC, this partial result was not statistically relevant. Due to the relevant rate of complications, endoscopic resection of duodenal adenomas is only recommended in an in-patient setting.
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Affiliation(s)
- Insa Aschmoneit-Messer
- Department of Internal Medicine II, HSK Wiesbaden (Teaching Hospital of the University of Mainz), Ludwig-Erhard-Strasse 100, 65199, Wiesbaden, Germany,
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Singh KL, Prabhu T, Gunjiganvi M, Kumar Singh CA, Moirangthem GS. Isolated duodenal adenoma presenting as gastrointestinal bleed - a case report. J Clin Diagn Res 2014; 8:ND01-2. [PMID: 25121024 DOI: 10.7860/jcdr/2014/8467.4430] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/16/2014] [Accepted: 05/09/2014] [Indexed: 11/24/2022]
Abstract
Duodenal polyps are rare lesions in patients undergoing Esophago-gastro-duodenoscopy (EGD), and the prevalence varies widely with range of 0.3-4.6% of cases. Duodenal adenomas most commonly occur in association with familial adenomatous polyposis. Isolated occurrence of such adenomas is very rare and presentation as upper gastrointestinal (GI) haemorrhage is even rarer. We herein report a case of elderly male patient presenting to emergency department with features of upper GI bleeding. Patient was resuscitated followed by EGD was done. On EGD bleeding duodenal polyp was found and endoscopic polypectomy was done to control the bleeding. Subsequent colonoscopy was done and was normal. The histopathological examination of the polypectomy specimen revealed tubular adenomatous polyp which is a premalignant condition. We also highlight the clinical presentation, histological types and treatment modalities available in the literature. However, there is lack of consensus regarding the outcome of various procedure described in the literature.
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Affiliation(s)
- Keisham Lokendra Singh
- Junior Resident, Department of Surgery, Regional Institute of Medical Sciences , Imphal, Manipur, India
| | - T Prabhu
- Junior Resident, Department of Surgery, Regional Institute of Medical Sciences , Imphal, Manipur, India
| | - Mallikarjun Gunjiganvi
- Junior Resident, Department of Surgery, Regional Institute of Medical Sciences , Imphal, Manipur, India
| | - Ch Arun Kumar Singh
- Professor, Department of Surgery, Regional Institute of Medical Sciences , Imphal, Manipur, India
| | - G S Moirangthem
- Professor, Department of Surgery, Regional Institute of Medical Sciences , Imphal, Manipur, India
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Pittayanon R, Imraporn B, Rerknimitr R, Kullavanijaya P. Advances in diagnostic endoscopy for duodenal, including ampullary, adenoma. Dig Endosc 2014; 26 Suppl 2:10-5. [PMID: 24750142 DOI: 10.1111/den.12244] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/27/2013] [Accepted: 01/08/2014] [Indexed: 12/12/2022]
Abstract
Currently, the strategy for real-time endoscopic diagnosis of duodenal, including ampullary, adenoma is still unclear. In the era of high-definition and magnification endoscopy, using this modality for the detection and diagnosis of these neoplasms is very challenging for endoscopists. Over the past 10 years, many instruments have been developed to improve the detection rate of duodenal and ampullary polyps and to distinguish between adenoma and non-adenoma. The present review will focus on these novel methods and their usefulness in the diagnosis of ampullary and non-ampullary adenoma.
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Affiliation(s)
- Rapat Pittayanon
- Division of Gastroenterology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
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Recurrences are common after endoscopic ampullectomy for adenoma in the familial adenomatous polyposis (FAP) syndrome. Surg Endosc 2014; 28:2349-56. [PMID: 24566750 DOI: 10.1007/s00464-014-3467-0] [Citation(s) in RCA: 37] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/11/2013] [Accepted: 01/19/2014] [Indexed: 12/12/2022]
Abstract
BACKGROUND Endoscopic ampullectomy is increasingly performed in patients with familial adenomatous polyposis (FAP)-associated ampullary adenomas. We sought to define the procedure-associated morbidities and long-term outcomes. METHODS We performed a retrospective chart review of patients with FAP who underwent endoscopic ampullectomy at two tertiary institutions between 1999 and 2010. The severity of duodenal polyposis was classified according to Spigelman's classification. RESULTS Of 26 FAP patients who underwent endoscopic ampullectomy, 21 arose in the setting of Spigelman's stage II duodenal polyposis. Adverse events associated with endoscopic ampullectomy included acute pancreatitis (19.2%), abdominal pain (7.6%), and bleeding (3.8%). The mean resected adenoma size was 0.99 ± 0.34 cm. Three adenomas (12.0%) contained foci of high-grade dysplasia. Follow-up data were available for 24 patients. The mean follow-up duration was 84.5 ± 36.2 months. Adenoma recurrence was observed in 14 patients (58.3%; 14/24) at a mean of 38.3 months after initial ampullectomy. Adenomas ≥10 mm recurred more frequently than smaller adenomas (76.9 vs. 36.4%; p = 0.002). Positive margins were not associated with higher recurrence rates. No cancers were observed during long-term follow-up. Three patients underwent a Whipple procedure, but none was performed for a recurrent ampullary adenoma. CONCLUSIONS Endoscopic ampullectomy in FAP can be performed safely. Because ampullary adenomas frequently recur after endoscopic ampullectomy, close surveillance is essential. Smaller tumors are less likely to recur, suggesting a benefit for early recognition of these lesions.
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32
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Aparicio T, Zaanan A, Svrcek M, Laurent-Puig P, Carrere N, Manfredi S, Locher C, Afchain P. Small bowel adenocarcinoma: epidemiology, risk factors, diagnosis and treatment. Dig Liver Dis 2014; 46:97-104. [PMID: 23796552 DOI: 10.1016/j.dld.2013.04.013] [Citation(s) in RCA: 199] [Impact Index Per Article: 18.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/07/2013] [Accepted: 04/29/2013] [Indexed: 12/11/2022]
Abstract
Small bowel adenocarcinomas are rare tumours, but their incidence is increasing. Their most common primary location is the duodenum. The few studies that have collected data regarding small bowel adenocarcinoma are not homogeneous and are widely spread over time. Even though these tumours are most often sporadic, some predisposing diseases have been identified, among which Crohn's disease and genetic syndromes. Early diagnosis of small bowel adenocarcinoma remains difficult despite significant radiological and endoscopic progress. After surgical resection the main prognostic factor is node invasion; in this case, adjuvant chemotherapy can be expected to be beneficial, although this has not been established by randomised trials. For metastatic disease, platinum-based chemotherapy seems to be the most effective treatment. Targeted therapies have not yet been evaluated in this type of cancer.
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Affiliation(s)
- Thomas Aparicio
- Gastroenterology and Digestive Oncology Unit, Avicenne Hospital, HUPSSD, APHP, Université Paris 13, Sorbonne Paris Cité, Bobigny, France.
| | - Aziz Zaanan
- Gastroenterology and Digestive Oncology Unit, Georges Pompidou Hospital, APHP, Paris, France; UMR-S775, INSERM, Paris, France
| | - Magali Svrcek
- Anatomopathology Unit, Saint Antoine Hospital, APHP, Paris France
| | | | | | - Sylvain Manfredi
- Hepato-Gastroenterology Unit, Pontchaillou Hospital, Rennes, France
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Hurley JJ, Ewing I, Sampson JR, Dolwani S. Gastrointestinal polyposis syndromes for the general gastroenterologist. Frontline Gastroenterol 2014; 5:68-76. [PMID: 28839754 PMCID: PMC5369703 DOI: 10.1136/flgastro-2013-100327] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/15/2013] [Revised: 05/15/2013] [Accepted: 05/16/2013] [Indexed: 02/04/2023] Open
Abstract
The occurrence of colonic polyps is a common phenomenon; however, where there are numerous adenomas or other polyps, and/or the patient is at a relatively young age, an inheritable form of gastrointestinal polyposis should be considered. Patients can present via different referral routes, for example, at colonoscopy where multiple polyps are detected, following a personal diagnosis of colorectal cancer, or by family screening. This article outlines the important considerations in the diagnosis of a polyposis syndrome and key diagnostic features to consider. It will also describe the underlying genetic factors associated with the common polyposis syndromes, including classical familial adenomatous polyposis (FAP), attenuated FAP, MUTYH-associated adenomatous polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome and serrated polyposis, and the subsequent management of each condition.
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Affiliation(s)
- Joanna J Hurley
- Department of Gastroenterology, University Hospital Llandough, Penarth, UK,Insitute of Medical Genetics, Cardiff University, Cardiff, UK
| | - Iain Ewing
- Department of Gastroenterology, North Middlesex University Hospital, London, UK
| | | | - Sunil Dolwani
- Department of Gastroenterology, University Hospital Llandough, Penarth, UK
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van Heumen BWH, Roelofs HMJ, te Morsche RHM, Nagengast FM, Peters WHM. Duodenal mucosal risk markers in patients with familial adenomatous polyposis: effects of celecoxib/ursodeoxycholic acid co-treatment and comparison with patient controls. Orphanet J Rare Dis 2013; 8:181. [PMID: 24245549 PMCID: PMC4225600 DOI: 10.1186/1750-1172-8-181] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/10/2013] [Accepted: 11/15/2013] [Indexed: 12/23/2022] Open
Abstract
Background Familial adenomatous polyposis (FAP) is a disease characterized by the development of hundreds to thousands of adenomatous polyps in the colorectum early in life. Virtually all patients with FAP will develop colorectal cancer before the age of 40 to 50 years, unless prophylactic colectomy is performed, which significantly improves their prognosis. The mortality pattern has changed and duodenal cancer now is one of the main cancer-related causes of death in these patients. Practically all patients with FAP develop premalignant duodenal adenomas, which may develop to duodenal cancer in approximately 3-7% of patients. Duodenal cancer in patients with FAP has a poor prognosis. The clinical challenge is to identify patients at high-risk for duodenal carcinoma. Chemoprevention would be desirable to avoid duodenectomy. The main goal of this study is to identify risk markers in normal duodenal mucosa of patients with FAP, that could help identify patients at increased risk for malignant transformation. Methods Messenger RNA (mRNA) levels of glutathione S-transferase A1 (GSTA1), glutathione S-transferase P1 (GSTP1), KIAA1199, E-cadherin, peroxisome proliferative activated receptor δ (PPARδ), caspase-3, cyclin D1, β-catenin, and cyclooxygenase-2 (COX-2) were measured in duodenal mucosa, using the QuantiGene 2.0 Plex assay. Levels in normal appearing mucosa of patients with FAP (n = 37) were compared with levels in non-FAP patient controls (n = 16). In addition, levels before and after treatment with either celecoxib & ursodeoxycholic acid (UDCA, n = 14) or celecoxib & placebo (n = 13) were evaluated in patients with FAP. Results mRNA levels of glutathione S-transferase A1 (28.16% vs. 38.24%, p = 0.008) and caspase-3 (3.30% vs. 5.31%, p = 0.001) were significantly lower in patients with FAP vs. non-FAP patient controls, respectively. COX-2 mRNA levels in normal duodenal mucosa of patients with FAP were found to be unexpectedly low. None of the potential risk markers was influenced by celecoxib or celecoxib & UDCA. Conclusions Protection against toxins and carcinogens (GSTA1) and apoptosis (caspase-3) is low in patients with FAP, which could contribute to increased susceptibility for malignant transformation of duodenal mucosa. Trial registration http://ClinicalTrials.gov number NCT00808743
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Affiliation(s)
- Bjorn W H van Heumen
- Department of Gastroenterology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
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Lucci-Cordisco E, Risio M, Venesio T, Genuardi M. The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A 2013; 161A:2777-87. [PMID: 24124059 DOI: 10.1002/ajmg.a.36253] [Citation(s) in RCA: 36] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/01/2013] [Accepted: 09/05/2013] [Indexed: 12/12/2022]
Abstract
Familial adenomatous polyposis has been the first form of inherited intestinal polyposis to be recognized. For a long time it has been considered the main polyposis syndrome, associated with an easily recognizable phenotype, with a marginal role attributed to a few very rare hamartomatous conditions. More recently, it has been gradually demonstrated that the intestinal polyposes encompass a range of conditions within a wide spectrum of disease severity, polyp histology, and extraintestinal manifestations. A growing number of genes and phenotypes has been identified, and heterogeneity of somatic molecular pathways underlying epithelial transformation in different syndromes and associated tumors has been documented. Increasing knowledge on the molecular bases and more widespread use of genetic tests has shown phenotypic overlaps between conditions that were previously considered distinct, highlighting diagnostic difficulties. With the advent of next generation sequencing, the diagnosis and the classification of these syndromes will be progressively based more on genetic testing results. However, the phenotypic variability documented among patients with mutations in the same genes cannot be fully explained by different expressivity, indicating a role for as yet unknown modifying factors. Until the latter will be identified, the management of patients with polyposis syndromes should be guided by both clinical and genetic findings.
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Affiliation(s)
- Emanuela Lucci-Cordisco
- Institute of Medical Genetics, "A. Gemelli" School of Medicine, Catholic University, Rome, Italy
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36
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van Heumen BWH, Roelofs HMJ, Vink-Börger ME, Dekker E, Mathus-Vliegen EMH, Dees J, Koornstra JJ, Langers AMJ, Nagtegaal ID, Kampman E, Peters WHM, Nagengast FM. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial. Orphanet J Rare Dis 2013; 8:118. [PMID: 23919274 PMCID: PMC3750541 DOI: 10.1186/1750-1172-8-118] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/10/2013] [Accepted: 08/01/2013] [Indexed: 12/16/2022] Open
Abstract
Background Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of cardiovascular events and alternatives need to be explored. Preclinical studies suggest that the combination of celecoxib with ursodeoxycholic acid (UDCA) is a potentially effective strategy. We performed a randomized, double-blind, placebo-controlled trial to investigate the effect of celecoxib and UDCA co-treatment on duodenal adenomatosis in patients with FAP. Methods Patients with FAP received celecoxib (400 mg twice daily) and UDCA (1000-2000 mg daily, ~20-30 mg/kg/day, n=19) or celecoxib and placebo (n=18) orally for 6 months. Primary outcome was drug efficacy, assessed by comparing duodenal polyp density at pre- and post-intervention by blinded review of endoscopic recordings. As secondary outcomes, cell proliferation, apoptosis, and COX-2 levels in normal duodenal mucosa were assessed by immunohistochemistry or real-time quantitative polymerase chain reaction. Results In intention-to-treat analysis, deceased polyp density was observed after celecoxib/placebo treatment (p=0.029), whereas increased polyp density was observed after celecoxib/UDCA treatment (p=0.014). The difference in change in duodenal polyp density was statistically significant between the groups (p=0.011). No changes in secondary outcomes were observed. Thirty patients (81%) reported one or more adverse events, 16 patients (84%, Common Toxicity Criteria for Adverse Events version 3.0 (CTCAE) grade 1–3) treated with celecoxib/UDCA and 14 patients (78%, CTCAE grade 1–2) treated with celecoxib/placebo. Nine patients (24%) discontinued intervention prematurely, 5 patients (26%) treated with celecoxib/UDCA and 4 patients (22%) treated with celecoxib/placebo. Conclusions Celecoxib reduces duodenal polyp density in patients with FAP, and unexpectedly, high dose UDCA co-treatment counteracts this effect. The benefit of long term use of celecoxib for duodenal cancer prevention needs to be weighed against the (risk of) adverse events. Trial registration http://ClinicalTrials.gov, identifier
NCT00808743
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Affiliation(s)
- Bjorn W H van Heumen
- Departments of Gastroenterology & Hepatology, Radboud University Nijmegen Medical Centre, Geert Grooteplein-Zuid 10, 6525 GA, Nijmegen, The Netherlands.
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The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis. Gastrointest Endosc 2013; 77:542-50. [PMID: 23352497 DOI: 10.1016/j.gie.2012.11.033] [Citation(s) in RCA: 43] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/19/2012] [Accepted: 11/21/2012] [Indexed: 12/12/2022]
Abstract
BACKGROUND The Spigelman classification stratifies cancer risk in familial adenomatous polyposis (FAP) patients with duodenal adenomatosis. High-resolution endoscopy (HRE) and narrow-band imaging (NBI) may identify lesions at high risk. OBJECTIVE To compare HRE and NBI for the detection of duodenal and gastric polyps and to characterize duodenal adenomas harboring advanced histology with HRE and NBI. DESIGN Prospective, nonrandomized, comparative study. Retrospective image evaluation study. SETTING Tertiary-care center. PATIENTS Thirty-seven FAP patients undergoing surveillance upper endoscopies. INTERVENTION HRE endoscopy was followed by NBI. The number of gastric polyps and Spigelman staging were compared. Duodenal polyp images were systematically reviewed in a learning and validation phase. MAIN OUTCOME MEASUREMENTS Number of gastric and duodenal polyps detected by HRE and NBI and prevalence of specific endoscopic features in duodenal adenomas with advanced histology. RESULTS NBI did not identify additional gastric polyps but detected more duodenal adenomas in 16 examinations, resulting in upgrades of the Spigelman stage in 2 cases (4.4%). Pictures of 168 duodenal adenomas (44% advanced histology) were assessed. In the learning phase, 3 endoscopic features were associated with advanced histology: white color, enlarged villi, and size ≥1 cm. Only size ≥1 cm was confirmed in the validation phase (odds ratio 3.0; 95% confidence interval, 1.2-7.4). LIMITATIONS Nonrandomized study, scant number of high-grade dysplasia adenomas. CONCLUSION Inspection with NBI did not lead to a clinically relevant upgrade in the Spigelman classification and did not improve the detection of gastric polyps in comparison with HRE. The only endoscopic feature that predicted advanced histology of a duodenal adenoma was size ≥1 cm.
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Balmforth DC, Phillips RKS, Clark SK. Advanced duodenal disease in familial adenomatous polyposis: how frequently should patients be followed up after successful therapy? Fam Cancer 2012; 11:553-7. [DOI: 10.1007/s10689-012-9546-2] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/24/2023]
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Abstract
Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events, but up to 5% are attributed to known monogenic disorders including Lynch syndrome, familial adenomatous polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers, and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer.
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40
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Koornstra JJ. Small bowel endoscopy in familial adenomatous polyposis and Lynch syndrome. Best Pract Res Clin Gastroenterol 2012; 26:359-68. [PMID: 22704577 DOI: 10.1016/j.bpg.2012.01.022] [Citation(s) in RCA: 38] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/04/2011] [Accepted: 01/19/2012] [Indexed: 01/31/2023]
Abstract
Patients with familial adenomatous polyposis (FAP) and patients with Lynch syndrome have an increased risk of developing small intestinal neoplasia. In both conditions, the lifetime risk to develop small bowel cancer is estimated to be around 5%. In FAP, this risk is associated with the degree of duodenal polyposis, classically assessed by the Spigelman classification. For this reason, gastroduodenal surveillance with forward-viewing and side-viewing endoscopy is generally recommended. Studies using video capsule endoscopy and balloon-assisted enteroscopy in FAP patients have revealed that jejunal and ileal polyps occur frequently in FAP, especially in those with extensive duodenal polyposis. Nevertheless, the clinical relevance of small bowel polyps beyond the duodenum appears to be limited. Compared to FAP, little is known about the prevalence and natural history of small bowel neoplasia in Lynch syndrome. Surveillance of the small bowel is not recommended in Lynch syndrome, although recent data using capsule endoscopy provided promising results.
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Affiliation(s)
- Jan Jacob Koornstra
- Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
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Abstract
Duodenal polyps are a rare finding in patients presenting for gastroscopy, being found in 0.3-4.6% of cases. The majority of patients are asymptomatic. The most common lesions necessitating removal are duodenal adenomas which should be differentiated from other mucosal lesions such as ectopic gastric mucosa, and submucosal lesions such as carcinoids and gastrointestinal stromal tumours (GISTs). Adenomas can occur sporadically or as part of a polyposis syndrome. Both groups carry malignant potential but this is higher in patients with a polyposis syndrome. The majority of sporadic duodenal adenomas are flat or sessile and occur in the second part of the duodenum. Historically duodenal adenomas have been managed by radical surgery, which carried significant mortality and morbidity, or more conservative local surgical excision which resulted in high local recurrence rates. There is growing evidence for the use of endoscopic mucosal resection (EMR) techniques for treatment of sporadic nonampullary duodenal adenomas, with good outcomes and low complication rates. Endoscopic submucosal dissection (ESD) carries greater risk of complications and should be reserved for experts in this technique. Patients with sporadic duodenal adenomas carry an increased risk of colonic neoplasia and should be offered colonoscopy. The impact of endoscopic resection on the course of polyposis syndromes such as familial adenomatous polyposis (FAP) needs further study.
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Affiliation(s)
- Peter John Basford
- Portsmouth Hospitals NHS Trust – Gastroenterology, Queen Alexandra Hospital, Cosham, Portsmouth, UK
| | - Pradeep Bhandari
- Department of Gastroenetrology, Queen Alexandra Hospital, Portsmouth, UK
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Jaganmohan S, Lynch PM, Raju RP, Ross WA, Lee JE, Raju GS, Bhutani MS, Fleming JB, Lee JH. Endoscopic management of duodenal adenomas in familial adenomatous polyposis--a single-center experience. Dig Dis Sci 2012; 57:732-7. [PMID: 21960285 DOI: 10.1007/s10620-011-1917-2] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/09/2011] [Accepted: 09/05/2011] [Indexed: 12/13/2022]
Abstract
BACKGROUND Duodenal lesions (DLS) are common in patients with familial adenomatosis polyposis (FAP), and screening for duodenal adenocarcinoma (DA) is currently recommended. Endoscopic treatment of DLS is controversial. AIM To report management and outcomes of endoscopic therapy for DLS in patients with FAP. METHODS The records of patients with FAP who underwent endoscopic surveillance or therapy for DLS over a 15-year period were reviewed. Endoscopic intervention included endoscopic surveillance with biopsies, argon plasma coagulation (APC), endoscopic mucosal resection (EMR), EMR with APC, and ampullectomy. Main outcome measurements were recurrence and histology of DLS after endoscopic therapy, complications of endoscopic therapy, and need for duodenectomy. RESULTS Seventy-one patients with FAP and DLS were identified from our endoscopy database as undergoing upper endoscopy for screening and/or surveillance (1995-2009). Mean follow up was 4.5 years (1-15 years). Seventy of the seventy-one (98.5%) patients had multiple flat DLS. Most of the patients were followed with yearly biopsies. APC was performed in 17 patients and EMR was performed in eight patients; in five of the eight EMR patients, APC was also performed to treat the edges of EMR site. During the follow up, 17/55 (31%) patients had histological progression (HP). HP was seen in 5/16 (31%) patients who underwent APC (one was lost to follow-up) and 12/40 (30%) patients followed with biopsies alone. Recurrence of lesions was noted in all patients. Two patients underwent duodenectomy. None of the patients developed DA during follow up. CONCLUSIONS Endoscopic surveillance with directed endotherapy for DLS in FAP is feasible and safe when diligently performed.
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Affiliation(s)
- Sathya Jaganmohan
- Department of Gastroenterology, MD Anderson Cancer Center, Houston, TX, USA
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van Heumen BWH, Roelofs HMJ, Te Morsche RHM, Marian B, Nagengast FM, Peters WHM. Celecoxib and tauro-ursodeoxycholic acid co-treatment inhibits cell growth in familial adenomatous polyposis derived LT97 colon adenoma cells. Exp Cell Res 2012; 318:819-27. [PMID: 22366264 DOI: 10.1016/j.yexcr.2012.02.004] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/11/2011] [Revised: 01/17/2012] [Accepted: 02/07/2012] [Indexed: 02/09/2023]
Abstract
Chemoprevention would be a desirable strategy to avoid duodenectomy in patients with familial adenomatous polyposis (FAP) suffering from duodenal adenomatosis. We investigated the in vitro effects on cell proliferation, apoptosis, and COX-2 expression of the potential chemopreventives celecoxib and tauro-ursodeoxycholic acid (UDCA). HT-29 colon cancer cells and LT97 colorectal micro-adenoma cells derived from a patient with FAP, were exposed to low dose celecoxib and UDCA alone or in combination with tauro-cholic acid (CA) and tauro-chenodeoxycholic acid (CDCA), mimicking bile of FAP patients treated with UDCA. In HT-29 cells, co-treatment with low dose celecoxib and UDCA resulted in a decreased cell growth (14-17%, p<0.01). A more pronounced decrease (23-27%, p<0.01) was observed in LT97 cells. Cell growth of HT-29 cells exposed to 'artificial bile' enriched with UDCA, was decreased (p<0.001), either in the absence or presence of celecoxib. In LT97 cells incubated with 'artificial bile' enriched with UDCA, cell growth was decreased only in the presence of celecoxib (p<0.05). No clear evidence was found for involvement of proliferating cell nuclear antigen, caspase-3, or COX-2 in the cellular processes leading to the observed changes in cell growth. In conclusion, co-treatment with low dose celecoxib and UDCA has growth inhibitory effects on colorectal adenoma cells derived from a patient with FAP, and further research on this combination as promising chemopreventive strategy is desired.
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Affiliation(s)
- Bjorn W H van Heumen
- Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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van Heumen BWH, Nieuwenhuis MH, van Goor H, Mathus-Vliegen LEMH, Dekker E, Gouma DJ, Dees J, van Eijck CHJ, Vasen HFA, Nagengast FM. Surgical management for advanced duodenal adenomatosis and duodenal cancer in Dutch patients with familial adenomatous polyposis: a nationwide retrospective cohort study. Surgery 2012; 151:681-90. [PMID: 22265391 DOI: 10.1016/j.surg.2011.12.008] [Citation(s) in RCA: 44] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2011] [Accepted: 12/09/2011] [Indexed: 12/14/2022]
Abstract
BACKGROUND Duodenal cancer is a major cause of mortality in patients with familial adenomatous polyposis (FAP). The clinical challenge is to perform duodenectomy before cancer develops; however, procedures are associated with complications. Our aim was to gain insight into the pros and cons of prophylactic duodenectomy. METHODS Patients with FAP from the nationwide Dutch polyposis registry who underwent prophylactic duodenectomy or were diagnosed with duodenal cancer were identified and classified as having benign disease or cancer at preoperative endoscopy. Surveillance, clinical presentation, surgical management, outcome, survival, and recurrence were compared. RESULTS Of 1,066 patients with FAP in the registry, 52 (5%; 25 males) were included: 36 with benign adenomatosis (median: 48 years old; including two (6%) cancer cases diagnosed after operation), and 16 with cancer (median: 53 years old). Cancer cases had been diagnosed with colorectal cancer more often (6% vs 44%; P < .01). Forty-three patients underwent duodenectomy (35 benign/eight cancer): 30-day mortality was 4.7% (n = 2), and in-hospital morbidity occurred in 21 patients (49%), without differences between patients with benign adenomatosis and cancer. Adenomas recurred in reconstructed proximal small bowel in 14 of 28 patients (50%, median time to recurrence: 75 months), and one patient developed cancer. Median survival of all 18 cancer cases in the registry (1.7%; 12 ampullary/six duodenal) was 11 months. CONCLUSION Prognosis of duodenal cancer in patients with FAP is poor, which justifies an aggressive approach to advanced benign adenomatosis. Strict adherence to recommended surveillance intervals is essential for a well-timed intervention. Given the substantial morbidity and mortality of duodenectomy, patients' individual characteristics are to be critically evaluated preoperatively. As adenomas recur, postoperative endoscopic surveillance is mandatory.
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Affiliation(s)
- Bjorn W H van Heumen
- Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
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Progression of duodenal adenomatosis in familial adenomatous polyposis: due to ageing of subjects and advances in technology. Fam Cancer 2012; 10:491-9. [PMID: 21416262 PMCID: PMC3175343 DOI: 10.1007/s10689-011-9433-2] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Familial adenomatous polyposis patients are at risk of duodenal cancer. Surveillance is indicated and the extent of duodenal polyposis is quantified by the Spigelman staging system. We noticed an impressive increase in high Spigelman stages over the years and therefore decided to investigate whether this increase might be due to the time-lapse since the inception of surveillance or related to improvements in endoscopic imaging and/or changes in dysplasia-reporting. Patients who were investigated by the same endoscopist since 1980 in at least 2 different episodes of technical improvements were eligible. The period 1980–2009 was divided into 4 episodes using the following landmarks: replacement of fibre-endoscopes by video-endoscopes in 1987, change in processors in 1995, change in image resolution in 2000, and change in dysplasia-reporting in 2006. An increase in Spigelman stages from low stages (0–II 100%) to high stages (III 28.1%, IV 43.8%) was seen (median follow-up: 19.5 years). In patients who progressed, a median of 4 years elapsed before progression by one stage occurred and 7 years to progress by two stages. In a mixed-model analysis, both time-lapse and technical improvements were determinant factors for duodenal disease progression. When both factors were introduced in the model, the time-lapse as well as the change in image resolution and dysplasia-ranking contributed consistently in increasing Spigelman scores and stages. The impressive increase in severity of duodenal polyposis is determined by time-lapse, technological advances and change in dysplasia-reporting. These results might call for a revised Spigelman classification.
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Popek S, Tsikitis VL. Epidemiology of Inherited Colon Cancer. SEMINARS IN COLON AND RECTAL SURGERY 2011. [DOI: 10.1053/j.scrs.2010.12.004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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Penninga L, Svendsen LB. Pancreas-preserving total duodenectomy: a 10-year experience. JOURNAL OF HEPATO-BILIARY-PANCREATIC SCIENCES 2011; 18:717-23. [DOI: 10.1007/s00534-011-0382-9] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Affiliation(s)
- Luit Penninga
- Surgery and Transplantation, Dept C-2122, Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark
- Copenhagen Trial Unit, Centre for Clinical Intervention Research, Department 3344, Rigshospitalet; Copenhagen University Hospital; Blegdamsvej 9 2100 Copenhagen Denmark
| | - Lars Bo Svendsen
- Surgery and Transplantation, Dept C-2122, Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark
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Parc Y, Mabrut JY, Shields C. Surgical management of the duodenal manifestations of familial adenomatous polyposis. Br J Surg 2011; 98:480-4. [PMID: 21656714 DOI: 10.1002/bjs.7374] [Citation(s) in RCA: 26] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/04/2010] [Indexed: 01/13/2023]
Abstract
BACKGROUND Duodenal adenomas develop in patients with familial adenomatous polyposis, incurring a risk of carcinoma. When this risk is high, surgery is indicated. The choice of surgical treatment can be difficult as evidence-based data are lacking. METHODS This is a systematic review of the literature on the non-medical management of duodenal lesions arising in the setting of familial adenomatous polyposis. Studies were identified through searching MEDLINE. Studies published between January 1965 and October 2009 were included. Data regarding number of subjects, complications, length of follow-up, recurrence rate and outcome were extracted. RESULTS Transduodenal resection does not differ from an endoscopic approach in terms of recurrence. Ampullectomy has limited application as only papillary lesions are amenable to treatment in this manner. Duodenectomy with pancreas preservation is preferable to pancreaticoduodenectomy unless malignancy is present, or cannot be excluded. CONCLUSION Surgery should be reserved for advanced or malignant polyps.
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Affiliation(s)
- Y Parc
- Department of Digestive Surgery, Hôpital Saint-Antoine, Université Pierre et Marie Curie, Paris, France.
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Zaanan A, Afchain P, Carrere N, Aparicio T. [Small bowel adenocarcinoma]. ACTA ACUST UNITED AC 2010; 34:371-9. [PMID: 20537487 DOI: 10.1016/j.gcb.2010.01.020] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2009] [Revised: 12/07/2009] [Accepted: 01/24/2010] [Indexed: 01/13/2023]
Abstract
Small bowel adenocarcinoma is a rare tumor. These tumors are more often sporadic but there is some predisposing disease (Crohn disease, genetic syndrome and rarely celiac disease). Diagnosis is usually performed at an advanced stage because of non-specific nature of clinical manifestations. New methods of radiological and endoscopic exploration of small intestine should allow earlier diagnosis. Surgical resection remains the only potentially curative treatment for non-metastasic tumors. The main prognosis factor is lymph nodes involvement. The role of adjuvant chemotherapy is unclear. For metastatic tumors, 5-fluorouracil and platinum salt combination appears to be the most effective chemotherapy despite of the absence of randomized studies. A national prospective cohort study is currently evaluating the results of chemotherapy (recommended protocol: FOLFOX) as adjuvant and palliative treatment of small bowel adenocarcinoma.
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Affiliation(s)
- A Zaanan
- Service d'oncologie médicale, hôpital Saint-Antoine, Paris, France.
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Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137:1976-85.e1-10. [PMID: 19732775 DOI: 10.1053/j.gastro.2009.08.052] [Citation(s) in RCA: 211] [Impact Index Per Article: 13.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/14/2009] [Revised: 07/28/2009] [Accepted: 08/18/2009] [Indexed: 12/13/2022]
Abstract
BACKGROUND & AIMS MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported. METHODS A large cohort of MAP patients was recruited from a European multicenter study. Data were collected on 276 cases from 181 unrelated families. Information on extracolonic tumor spectrum and incidence were evaluated to determine cumulative lifetime risk, which was compared with that of the general population to obtain standardized incidence ratios (SIRs). RESULTS Duodenal polyposis occurred in 17% of cases; the relative risk (SIR) of duodenal cancer was 129 (95% confidence interval [CI]: 16-466), whereas the lifetime risk was 4%. The incidence of extraintestinal malignancies among cases was almost twice that of the general population (SIR: 1.9; 95% CI: 1.4-2.5), with a lifetime risk of 38%. We observed a significant increase in the incidence of ovarian, bladder, and skin cancers (SIR: 5.7, 7.2, and 2.8, respectively) and a trend of increased risk of breast cancer among cases. The median ages of onset of these 4 malignancies ranged from 51 to 61 years. In contrast to familial adenomatous polyposis, no desmoid tumors were observed, but sebaceous gland tumors, characteristic of the Muir-Torre variant of Lynch syndrome, occurred in 5 patients. CONCLUSIONS The relative risks for several extraintestinal malignancies increased in patients with MAP, but based on the spectrum of cancers (which overlaps with that of Lynch syndrome) and the relatively advanced age at onset, intensive surveillance measures other than frequent endoscopy are unlikely to be helpful to patients with MAP.
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Affiliation(s)
- Stefanie Vogt
- Institute of Human Genetics, University of Bonn, Bonn, Germany
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