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Castillo-Iturra J, Sánchez A, Balaguer F. Colonoscopic surveillance in Lynch syndrome: guidelines in perspective. Fam Cancer 2024; 23:459-468. [PMID: 39066849 PMCID: PMC11512898 DOI: 10.1007/s10689-024-00414-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/01/2024] [Accepted: 07/03/2024] [Indexed: 07/30/2024]
Abstract
Lynch syndrome predisposes to a high risk of colorectal cancer and colonoscopy remains the primary preventive strategy. The prevention of colorectal cancer through colonoscopy relies on identifying and removing adenomas, the main precursor lesion. Nevertheless, colonoscopy is not an optimal strategy since post-colonoscopy colorectal cancer remains an important issue. In continuation of a 2021 journal review, the present article seeks to offer an updated perspective by examining relevant articles from the past 3 years. We place recent findings in the context of existing guidelines, with a specific focus on colonoscopy surveillance. Key aspects explored include colonoscopy quality standards, timing of initiation, and surveillance intervals. Our review provides a comprehensive analysis of adenoma-related insights in Lynch syndrome, delving into emerging technologies like virtual chromoendoscopy and artificial intelligence-assisted endoscopy. This review aims to contribute valuable insights into the topic of colonoscopy surveillance in Lynch syndrome.
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Affiliation(s)
- Joaquín Castillo-Iturra
- Department of Gastroenterology, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
| | - Ariadna Sánchez
- Department of Gastroenterology, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
| | - Francesc Balaguer
- Department of Gastroenterology, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
- Facultat de Medicina i Ciències de la Salud, Universitat de Barcelona (UB), Barcelona, Spain.
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2
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Helderman NC, van Leerdam ME, Kloor M, Ahadova A, Nielsen M. Emerge of colorectal cancer in Lynch syndrome despite colonoscopy surveillance: A challenge of hide and seek. Crit Rev Oncol Hematol 2024; 197:104331. [PMID: 38521284 DOI: 10.1016/j.critrevonc.2024.104331] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2024] [Revised: 03/09/2024] [Accepted: 03/20/2024] [Indexed: 03/25/2024] Open
Abstract
Even with colonoscopy surveillance, Lynch syndromes (LS) carriers still develop colorectal cancer (CRC). The cumulative incidence of CRCs under colonoscopy surveillance varies depending on the affected mismatch repair (MMR) gene. However, the precise mechanisms driving these epidemiological patterns remain incompletely understood. In recent years, several potential mechanisms explaining the occurrence of CRCs during colonoscopy surveillance have been proposed in individuals with and without LS. These encompass biological factors like concealed/accelerated carcinogenesis through a bypassed adenoma stage and accelerated progression from adenomas. Alongside these, various colonoscopy-related factors may contribute to formation of CRCs under colonoscopy surveillance, like missed yet detectable (pre)cancerous lesions, detected yet incompletely removed (pre)cancerous lesions, and colonoscopy-induced carcinogenesis due to tumor cell reimplantation. In this comprehensive literature update, we reviewed these potential factors and evaluated their relevance to each MMR group in an attempt to raise further awareness and stimulate research regarding this conflicting phenomenon.
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Affiliation(s)
- Noah C Helderman
- Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
| | - Monique E van Leerdam
- Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, the Netherlands; Department of Gastrointestinal Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands
| | - Matthias Kloor
- Department of Applied Tumor Biology, Heidelberg University Hospital, Clinical Cooperation Unit Applied Tumor Biology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
| | - Aysel Ahadova
- Department of Applied Tumor Biology, Heidelberg University Hospital, Clinical Cooperation Unit Applied Tumor Biology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
| | - Maartje Nielsen
- Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
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3
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Dal Buono A, Puccini A, Franchellucci G, Airoldi M, Bartolini M, Bianchi P, Santoro A, Repici A, Hassan C. Lynch Syndrome: From Multidisciplinary Management to Precision Prevention. Cancers (Basel) 2024; 16:849. [PMID: 38473212 DOI: 10.3390/cancers16050849] [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: 01/16/2024] [Revised: 02/10/2024] [Accepted: 02/19/2024] [Indexed: 03/14/2024] Open
Abstract
BACKGROUND AND AIMS Lynch syndrome (LS) is currently one of the most prevalent hereditary cancer conditions, accounting for 3% of all colorectal cancers and for up to 15% of those with DNA mismatch repair (MMR) deficiency, and it was one of the first historically identified. The understanding of the molecular carcinogenesis of LS tumors has progressed significantly in recent years. We aim to review the most recent advances in LS research and explore genotype-based approaches in surveillance, personalized cancer prevention, and treatment strategies. METHODS PubMed was searched to identify relevant studies, conducted up to December 2023, investigating molecular carcinogenesis in LS, surveillance strategies, cancer prevention, and treatment in LS tumors. RESULTS Multigene panel sequencing is becoming the benchmark in the diagnosis of LS, allowing for the detection of a pathogenic constitutional variant in one of the MMR genes. Emerging data from randomized controlled trials suggest possible preventive roles of resistant starch and/or aspirin in LS. Vaccination with immunogenic frameshift peptides appears to be a promising approach for both the treatment and prevention of LS-associated cancers, as evidenced by pre-clinical and preliminary phase 1/2a studies. CONCLUSIONS Although robust diagnostic algorithms, including prompt testing of tumor tissue for MMR defects and referral for genetic counselling, currently exist for suspected LS in CRC patients, the indications for LS screening in cancer-free individuals still need to be refined and standardized. Investigation into additional genetic and non-genetic factors that may explain residual rates of interval cancers, even in properly screened populations, would allow for more tailored preventive strategies.
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Affiliation(s)
- Arianna Dal Buono
- Department of Gastroenterology, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
| | - Alberto Puccini
- Medical Oncology and Haematology Unit, Humanitas Cancer Center, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
| | - Gianluca Franchellucci
- Department of Gastroenterology, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
- Department of Biomedical Sciences, Humanitas University, 20072 Pieve Emanuele, Milan, Italy
| | - Marco Airoldi
- Department of Gastroenterology, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
- Department of Biomedical Sciences, Humanitas University, 20072 Pieve Emanuele, Milan, Italy
| | - Michela Bartolini
- Department of Gastroenterology, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
- Department of Biomedical Sciences, Humanitas University, 20072 Pieve Emanuele, Milan, Italy
| | - Paolo Bianchi
- Clinical Analysis Laboratory, Oncological Molecular Genetics Section, IRCCS Humanitas Research Hospital, 20089 Rozzano, Milan, Italy
| | - Armando Santoro
- Medical Oncology and Haematology Unit, Humanitas Cancer Center, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
- Department of Biomedical Sciences, Humanitas University, 20072 Pieve Emanuele, Milan, Italy
| | - Alessandro Repici
- Department of Gastroenterology, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
- Department of Biomedical Sciences, Humanitas University, 20072 Pieve Emanuele, Milan, Italy
| | - Cesare Hassan
- Department of Gastroenterology, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy
- Department of Biomedical Sciences, Humanitas University, 20072 Pieve Emanuele, Milan, Italy
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Gimeno-García AZ, Quintero E. Role of colonoscopy in colorectal cancer screening: Available evidence. Best Pract Res Clin Gastroenterol 2023; 66:101838. [PMID: 37852706 DOI: 10.1016/j.bpg.2023.101838] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/09/2023] [Revised: 04/26/2023] [Accepted: 04/30/2023] [Indexed: 10/20/2023]
Abstract
Colonoscopy is the cornerstone examination for colorectal cancer (CRC) screening and it is recommended as the first examination in the context of individuals with high risk of CRC development. Thereby, this examination is of choice in the setting of patients with hereditary CRC syndromes or in patients with long-standing inflammatory bowel disease with colon involvement. However, its role is less clear in the average risk-risk population and in patients with family history of CRC not linked to hereditary CRC syndromes. Despite this, current guidelines, include colonoscopy as alternative for CRC screening either in average risk population with the same evidence level that other screening strategies or in the familial risk population. The present manuscript reviews the clinical evidence on the role of colonoscopy in preventing CRC in different screening settings.
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Affiliation(s)
- Antonio Z Gimeno-García
- Department of Gastroenterology of Hospital Universitario de Canarias, Instituto Universitario de Tecnologías Biomédicas (ITB) & Centro de Investigación Biomédica de Canarias (CIBICAN), Universidad de La Laguna, Spain
| | - Enrique Quintero
- Department of Gastroenterology of Hospital Universitario de Canarias, Instituto Universitario de Tecnologías Biomédicas (ITB) & Centro de Investigación Biomédica de Canarias (CIBICAN), Universidad de La Laguna, Spain.
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5
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Qi ZP, Xu EP, He DL, Wang Y, Chen BS, Dong XS, Shi Q, Cai SL, Guo Q, Li N, Li X, Huang HY, Li B, Sun D, Xu JG, Chen ZH, Yalikong A, Liu JY, Lv ZT, Xu JM, Zhou PH, Zhong YS. Efficacy of image-enhanced endoscopy for colorectal adenoma detection: A multicenter, randomized trial. World J Gastrointest Oncol 2023; 15:878-891. [PMID: 37275449 PMCID: PMC10237030 DOI: 10.4251/wjgo.v15.i5.878] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/05/2022] [Revised: 01/24/2023] [Accepted: 04/12/2023] [Indexed: 05/12/2023] Open
Abstract
BACKGROUND Improved adenoma detection at colonoscopy has decreased the risk of developing colorectal cancer. However, whether image-enhanced endoscopy (IEE) further improves the adenoma detection rate (ADR) is controversial.
AIM To compare IEE with white-light imaging (WLI) endoscopy for the detection and identification of colorectal adenoma.
METHODS This was a multicenter, randomized, controlled trial. Participants were enrolled between September 2019 to April 2021 from 4 hospital in China. Patients were randomly assigned to an IEE group with WLI on entry and IEE on withdrawal (n = 2113) or a WLI group with WLI on both entry and withdrawal (n = 2098). The primary outcome was the ADR. The secondary endpoints were the polyp detection rate (PDR), adenomas per colonoscopy, adenomas per positive colonoscopy, and factors related to adenoma detection.
RESULTS A total of 4211 patients (966 adenomas) were included in the analysis (mean age, 56.7 years, 47.1% male). There were 2113 patients (508 adenomas) in the IEE group and 2098 patients (458 adenomas) in the WLI group. The ADR in two group were not significantly different [24.0% vs 21.8%, 1.10, 95% confidence interval (CI): 0.99-1.23, P = 0.09]. The PDR was higher with IEE group (41.7%) than with WLI group (36.1%, 1.16, 95%CI: 1.07-1.25, P = 0.01). Differences in mean withdrawal time (7.90 ± 3.42 min vs 7.85 ± 3.47 min, P = 0.30) and adenomas per colonoscopy (0.33 ± 0.68 vs 0.28 ± 0.62, P = 0.06) were not significant. Subgroup analysis found that with narrow-band imaging (NBI), between-group differences in the ADR, were not significant (23.7% vs 21.8%, 1.09, 95%CI: 0.97-1.22, P = 0.15), but were greater with linked color imaging (30.9% vs 21.8%, 1.42, 95%CI: 1.04-1.93, P = 0.04). the second-generation NBI (2G-NBI) had an advantage of ADR than both WLI and the first-generation NBI (27.0% vs 21.8%, P = 0.01; 27.0% vs 21.2.0%, P = 0.01).
CONCLUSION This prospective study confirmed that, among Chinese, IEE didn’t increase the ADR compared with WLI, but 2G-NBI increase the ADR.
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Affiliation(s)
- Zhi-Peng Qi
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - En-Pan Xu
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Dong-Li He
- Endoscopy Center, Shanghai Xuhui Central Hospital, Shanghai 200030, China
| | - Yan Wang
- Endoscopy Center, Traditional Chinese Medical Hospital, Rongcheng 264300, Shandong Province, China
| | - Bai-Sheng Chen
- Department of Endoscopy Center, Xiamen Branch of Affiliated Zhongshan Hospital of Fudan University, Xiamen 361000, Fujian Province, China
| | - Xue-Si Dong
- Office of Cancer Screening, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100000, China
| | - Qiang Shi
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Shi-Lun Cai
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Qi Guo
- Endoscopy Center, Shanghai Xuhui Central Hospital, Shanghai 200030, China
| | - Ni Li
- Office of Cancer Screening, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100000, China
| | - Xing Li
- Department of Gastroenterology, Pingxiang People’s Hospital, Pingxiang 337000, Jiangxi Province, China
| | - Hai-Yan Huang
- Department of Clinical Medicine, Xiaogang Hospital, Ningbo 315000, Zhejiang Province, China
| | - Bing Li
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Di Sun
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Jian-Guang Xu
- Endoscopy Center, Quzhou People’s Hospital, Quzhou 324000, Zhejiang Province, China
| | - Zhang-Han Chen
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Ayimukedisi Yalikong
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Jin-Yi Liu
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Zhen-Tao Lv
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Jian-Min Xu
- Department of General Surgery, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Ping-Hong Zhou
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
| | - Yun-Shi Zhong
- Endoscopy Center, Zhongshan Hospital of Fudan University, Shanghai 200030, China
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Williams MH, Hadjinicolaou AV, Norton B, Kader R, Lovat LB. Lynch syndrome: from detection to treatment. Front Oncol 2023; 13:1166238. [PMID: 37197422 PMCID: PMC10183578 DOI: 10.3389/fonc.2023.1166238] [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: 02/15/2023] [Accepted: 04/11/2023] [Indexed: 05/19/2023] Open
Abstract
Lynch syndrome (LS) is an inherited cancer predisposition syndrome associated with high lifetime risk of developing tumours, most notably colorectal and endometrial. It arises in the context of pathogenic germline variants in one of the mismatch repair genes, that are necessary to maintain genomic stability. LS remains underdiagnosed in the population despite national recommendations for empirical testing in all new colorectal and endometrial cancer cases. There are now well-established colorectal cancer surveillance programmes, but the high rate of interval cancers identified, coupled with a paucity of high-quality evidence for extra-colonic cancer surveillance, means there is still much that can be achieved in diagnosis, risk-stratification and management. The widespread adoption of preventative pharmacological measures is on the horizon and there are exciting advances in the role of immunotherapy and anti-cancer vaccines for treatment of these highly immunogenic LS-associated tumours. In this review, we explore the current landscape and future perspectives for the identification, risk stratification and optimised management of LS with a focus on the gastrointestinal system. We highlight the current guidelines on diagnosis, surveillance, prevention and treatment and link molecular disease mechanisms to clinical practice recommendations.
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Affiliation(s)
- Madeleine H. Williams
- Department of Gastroenterology, Guy’s and St. Thomas NHS Foundation Trust, London, United Kingdom
| | - Andreas V. Hadjinicolaou
- Department of Gastroenterology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
- Early Cancer Institute, Department of Oncology, University of Cambridge, Cambridge, United Kingdom
- *Correspondence: Andreas V. Hadjinicolaou,
| | - Benjamin C. Norton
- Department of Gastroenterology, University College London Hospitals NHS Foundation Trust, London, United Kingdom
| | - Rawen Kader
- Wellcome-EPSRC Centre for Interventional and Surgical Sciences, University College London, London, United Kingdom
| | - Laurence B. Lovat
- Wellcome-EPSRC Centre for Interventional and Surgical Sciences, University College London, London, United Kingdom
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7
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Young EJ, Rajandran A, Philpott HL, Sathananthan D, Hoile SF, Singh R. Mucosal imaging in colon polyps: New advances and what the future may hold. World J Gastroenterol 2022; 28:6632-6661. [PMID: 36620337 PMCID: PMC9813932 DOI: 10.3748/wjg.v28.i47.6632] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/03/2022] [Revised: 10/23/2022] [Accepted: 11/23/2022] [Indexed: 12/19/2022] Open
Abstract
An expanding range of advanced mucosal imaging technologies have been developed with the goal of improving the detection and characterization of lesions in the gastrointestinal tract. Many technologies have targeted colorectal neoplasia given the potential for intervention prior to the development of invasive cancer in the setting of widespread surveillance programs. Improvement in adenoma detection reduces miss rates and prevents interval cancer development. Advanced imaging technologies aim to enhance detection without significantly increasing procedural time. Accurate polyp characterisation guides resection techniques for larger polyps, as well as providing the platform for the “resect and discard” and “do not resect” strategies for small and diminutive polyps. This review aims to collate and summarise the evidence regarding these technologies to guide colonoscopic practice in both interventional and non-interventional endoscopists.
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Affiliation(s)
- Edward John Young
- Department of Gastroenterology, Lyell McEwin Hospital, Northern Adelaide Local Health Network, Elizabeth Vale 5031, South Australia, Australia
- Faculty of Health and Medical Sciences, University of Adelaide, Adelaide 5000, South Australia, Australia
| | - Arvinf Rajandran
- Department of Gastroenterology, Lyell McEwin Hospital, Northern Adelaide Local Health Network, Elizabeth Vale 5031, South Australia, Australia
| | - Hamish Lachlan Philpott
- Department of Gastroenterology, Lyell McEwin Hospital, Northern Adelaide Local Health Network, Elizabeth Vale 5031, South Australia, Australia
- Faculty of Health and Medical Sciences, University of Adelaide, Adelaide 5000, South Australia, Australia
| | - Dharshan Sathananthan
- Department of Gastroenterology, Lyell McEwin Hospital, Northern Adelaide Local Health Network, Elizabeth Vale 5031, South Australia, Australia
- Faculty of Health and Medical Sciences, University of Adelaide, Adelaide 5000, South Australia, Australia
| | - Sophie Fenella Hoile
- Department of Gastroenterology, Lyell McEwin Hospital, Northern Adelaide Local Health Network, Elizabeth Vale 5031, South Australia, Australia
- Faculty of Health and Medical Sciences, University of Adelaide, Adelaide 5000, South Australia, Australia
| | - Rajvinder Singh
- Department of Gastroenterology, Lyell McEwin Hospital, Northern Adelaide Local Health Network, Elizabeth Vale 5031, South Australia, Australia
- Faculty of Health and Medical Sciences, University of Adelaide, Adelaide 5000, South Australia, Australia
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8
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Houwen BBSL, Hazewinkel Y, Pellisé M, Rivero-Sánchez L, Balaguer F, Bisschops R, Tejpar S, Repici A, Ramsoekh D, Jacobs MAJM, Schreuder RMM, Kaminski MF, Rupinska M, Bhandari P, van Oijen MGH, Koens L, Bastiaansen BAJ, Tytgat KM, Fockens P, Vleugels JLA, Dekker E. Linked Colour imaging for the detection of polyps in patients with Lynch syndrome: a multicentre, parallel randomised controlled trial. Gut 2022; 71:553-560. [PMID: 34086597 PMCID: PMC8862075 DOI: 10.1136/gutjnl-2020-323132] [Citation(s) in RCA: 17] [Impact Index Per Article: 5.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/21/2020] [Revised: 03/03/2021] [Accepted: 03/08/2021] [Indexed: 12/19/2022]
Abstract
OBJECTIVE Despite regular colonoscopy surveillance, colorectal cancers still occur in patients with Lynch syndrome. Thus, detection of all relevant precancerous lesions remains very important. The present study investigates Linked Colour imaging (LCI), an image-enhancing technique, as compared with high-definition white light endoscopy (HD-WLE) for the detection of polyps in this patient group. DESIGN This prospective, randomised controlled trial was performed by 22 experienced endoscopists from eight centres in six countries. Consecutive Lynch syndrome patients ≥18 years undergoing surveillance colonoscopy were randomised (1:1) and stratified by centre for inspection with either LCI or HD-WLE. Primary outcome was the polyp detection rate (PDR). RESULTS Between January 2018 and March 2020, 357 patients were randomised and 332 patients analysed (160 LCI, 172 HD-WLE; 6 excluded due to incomplete colonoscopies and 19 due to insufficient bowel cleanliness). No significant difference was observed in PDR with LCI (44.4%; 95% CI 36.5% to 52.4%) compared with HD-WLE (36.0%; 95% CI 28.9% to 43.7%) (p=0.12). Of the secondary outcome parameters, more adenomas were found on a patient (adenoma detection rate 36.3%; vs 25.6%; p=0.04) and a colonoscopy basis (mean adenomas per colonoscopy 0.65 vs 0.42; p=0.04). The median withdrawal time was not statistically different between LCI and HD-WLE (12 vs 11 min; p=0.16). CONCLUSION LCI did not improve the PDR compared with HD-WLE in patients with Lynch syndrome undergoing surveillance. The relevance of findings more adenomas by LCI has to be examined further. TRIAL REGISTRATION NUMBER NCT03344289.
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Affiliation(s)
- Britt B S L Houwen
- Gastroenterology and Hepatology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
| | - Yark Hazewinkel
- Gastroenterology and Hepatology, Radboud University Hospital Nijmegen, Nijmegen, Gelderland, The Netherlands
| | - María Pellisé
- Gastroenterology, Hospital Clinic de Barcelona, Barcelona, Catalunya, Spain
- Gastroenterology, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
| | - Liseth Rivero-Sánchez
- Gastroenterology, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
- Gastroenterology, Hospital Clinic de Barcelona, Barcelona, Spain
| | - Francesc Balaguer
- Gastroenterology, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
- Gastroenterology, Hospital Clinic de Barcelona, Barcelona, Spain
| | - Raf Bisschops
- Gastroenterology, University Hospital Leuven, Leuven, Belgium
| | - Sabine Tejpar
- Gastroenterology and Hepatology, University Hospital Leuven, Leuven, Belgium
| | - Alessandro Repici
- Department of Biomedical Sciences, Humanitas University, Milan, Italy
- IRCCS Humanitas Research Hospital, Milan, Italy
| | - D Ramsoekh
- Gastroenterology and Hepatology, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands
| | - Maarten A J M Jacobs
- Gastroenterology and Hepatology, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands
| | | | - Michal Filip Kaminski
- Department of Gastroenterology, Hepatology and Oncology, Medical Centre fo Postgraduate Education, Warsaw, Poland
- Department of Gastroenterological Oncology, The Maria Sklodowska-Curie Memorial Cancer Centre, Institute of Oncology, Warsaw, Poland
| | - Maria Rupinska
- Department of Gastroenterology, Hepatology and Oncology, Medical Centre fo Postgraduate Education, Warsaw, Poland
- Department of Gastroenterological Oncology, The Maria Sklodowska-Curie Memorial Cancer Centre, Institute of Oncology, Warsaw, Poland
| | - Pradeep Bhandari
- Gastroenterology, Portsmouth Hospitals NHS Trust, Portsmouth, UK
| | - Martijn G H van Oijen
- Medical Oncology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
| | - Lianne Koens
- Department of Pathology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
| | - Barbara A J Bastiaansen
- Gastroenterology and Hepatology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
| | - Kristien M Tytgat
- Gastroenterology and Hepatology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
| | - Paul Fockens
- Gastroenterology and Hepatology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
| | - Jasper L A Vleugels
- Gastroenterology and Hepatology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
| | - E Dekker
- Gastroenterology and Hepatology, Amsterdam UMC Location AMC, Amsterdam, North Holland, The Netherlands
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9
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Lee A, Tutticci N. Enhancing polyp detection: technological advances in colonoscopy imaging. Transl Gastroenterol Hepatol 2021; 6:61. [PMID: 34805583 DOI: 10.21037/tgh.2020.02.05] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/06/2019] [Accepted: 01/17/2020] [Indexed: 12/27/2022] Open
Abstract
The detection and removal of polyps at colonoscopy is core to the current colorectal cancer (CRC) prevention strategy. However, colonoscopy is flawed with a well described miss rate and variability in detection rates associated with incomplete protection from CRC. Consequently, there is significant interest in techniques and technologies which increase polyp detection with the aim to remedy colonoscopy's ills. Technologic advances in colonoscope imaging are numerous and include; increased definition of imaging, widening field of view, virtual technologies to supplant conventional chromocolonoscopy (CC) and now computer assisted detection. However, despite nearly two decades of technologic advances, data on gains in detection from individual technologies have been modest at best and heterogenous and conflicted as a rule. This state of detection technology science is exacerbated by use of relatively blunt metrics of improvement without consensus, the myopic search for gains over single generations of technology improvement and an unhealthy focus on adenomatous lesions. Yet there remains cause for optimism as detection gains from new technology, while small, may still improve CRC prevention. The technologies are also readily available in current generation colonoscopes and have roles beyond simply detection such as lesion characterization, further improving their worth. Coupled with the imminent expansion of computer assisted detection the detection future from colonoscope imaging advances looks bright. This review aims to cover the major imaging advances and evidence for improvement in polyp detection.
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Affiliation(s)
- Antonio Lee
- Endoscopy Unit, Queen Elizabeth II Jubilee Hospital, Brisbane, Australia
| | - Nicholas Tutticci
- Endoscopy Unit, Queen Elizabeth II Jubilee Hospital, Brisbane, Australia
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10
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Montale A, Buttitta F, Pierantoni C, Ferrari C, Cameletti M, Colussi D, Miccoli S, Bazzoli F, Turchetti D, Ricciardiello L. Chromoendoscopy Is Not Superior to White Light Endoscopy in Improving Adenoma Detection in Lynch Syndrome Cohort Undergoing Surveillance with High-Resolution Colonoscopy: A Real-World Evidence Study. Dig Dis 2021; 40:517-525. [PMID: 34515093 DOI: 10.1159/000518840] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/23/2021] [Accepted: 08/02/2021] [Indexed: 02/02/2023]
Abstract
BACKGROUND Endoscopic surveillance in patients with Lynch syndrome (LS) is crucial due to a genetically based high risk of colorectal cancer (CRC). We aimed to compare the adenoma detection rate (ADR) between high-resolution white light endoscopy (WLE) alone and WLE plus dye chromoendoscopy (CE) in a cohort of LS patients. METHODS In a context of real-world data, we retrospectively enrolled 50 LS patients who had non-randomly undergone WLE versus CE surveillance examinations from 2007 to 2019. The 2 groups were compared at baseline (BL) in terms of the rate of patients with lesions and the number of lesions, and at follow-up (FU), to evaluate a possible enhanced detection rate. Longitudinal analysis of the effect of the endoscopy type on the main outcomes was performed by generalized linear mixed models. RESULTS Forty-two patients had undergone at least one diagnostic colonoscopy. At BL and at FU analysis, we found no significant differences in detection rates and clinical-pathological features between WLE and CE groups. At the longitudinal analysis, an increase in the endoscopy rank (i.e., the position of each colonoscopy for all the colonoscopies that a patient had undergone) was associated with an increase in polyp detection rate (p = 0.006) and ADR (p = 0.005), while a trend toward significance (p = 0.069) was found for endoscopy type (CE vs. WLE) in the detection of serrated lesions. CONCLUSIONS CE is not superior to high-resolution WLE in increasing the ADR. Even under standard WLE, an active and careful endoscopic surveillance of LS patients can prevent CRC.
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Affiliation(s)
- Amedeo Montale
- Gastroenterology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.,Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
| | - Francesco Buttitta
- Gastroenterology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy, .,Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy,
| | - Chiara Pierantoni
- Gastroenterology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.,Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
| | | | - Michela Cameletti
- Department of Management, Economics and Quantitative Methods, University of Bergamo, Bergamo, Italy
| | - Dora Colussi
- Gastroenterology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.,Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
| | - Sara Miccoli
- Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.,Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
| | - Franco Bazzoli
- Gastroenterology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.,Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
| | - Daniela Turchetti
- Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.,Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
| | - Luigi Ricciardiello
- Gastroenterology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.,Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
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11
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Olivier R, Randrian V, Tougeron D, Saurin JC. Endoscopy to Diagnose and Prevent Digestive Cancers in Lynch Syndrome. Cancers (Basel) 2021; 13:cancers13143505. [PMID: 34298719 PMCID: PMC8305049 DOI: 10.3390/cancers13143505] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2021] [Revised: 06/23/2021] [Accepted: 07/09/2021] [Indexed: 12/15/2022] Open
Abstract
Lynch syndrome patients could benefit from various recommendations to prevent digestive cancers. In this review, we summarize the criteria to identify Lynch syndrome in patients with digestive cancers. We detail endoscopic screening procedures in patients with Lynch syndrome for gastric, small bowel, pancreatic, and colorectal cancers. We review the precise modalities of endoscopic follow-up, particularly the discrepancies that exist between the guidelines of the various scientific societies. We discuss the treatment of colorectal cancers in Lynch syndrome cases and patient adherence to endoscopic follow-up programs.
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Affiliation(s)
- Raphael Olivier
- Gastroenterology Department, Poitiers University Hospital (CHU de Poitiers), 86000 Poitiers, France; (V.R.); (D.T.)
- Correspondence: ; Tel.:+33-05-49-44-37-51; Fax: +33-05-49-44-38-35
| | - Violaine Randrian
- Gastroenterology Department, Poitiers University Hospital (CHU de Poitiers), 86000 Poitiers, France; (V.R.); (D.T.)
| | - David Tougeron
- Gastroenterology Department, Poitiers University Hospital (CHU de Poitiers), 86000 Poitiers, France; (V.R.); (D.T.)
| | - Jean-Christophe Saurin
- Gastroenterology Department, Hospices Civils de Lyon—Centre Hospitalier Universitaire, 69002 Lyon, France;
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12
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Lepore Signorile M, Disciglio V, Di Carlo G, Pisani A, Simone C, Ingravallo G. From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome. Int J Mol Sci 2021; 22:ijms22136767. [PMID: 34201893 PMCID: PMC8268977 DOI: 10.3390/ijms22136767] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/28/2021] [Revised: 06/18/2021] [Accepted: 06/21/2021] [Indexed: 12/30/2022] Open
Abstract
Lynch syndrome is a hereditary cancer-predisposing syndrome caused by germline defects in DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, and PMS2. Carriers of pathogenic mutations in these genes have an increased lifetime risk of developing colorectal cancer (CRC) and other malignancies. Despite intensive surveillance, Lynch patients typically develop CRC after 10 years of follow-up, regardless of the screening interval. Recently, three different molecular models of colorectal carcinogenesis were identified in Lynch patients based on when MMR deficiency is acquired. In the first pathway, adenoma formation occurs in an MMR-proficient background, and carcinogenesis is characterized by APC and/or KRAS mutation and IGF2, NEUROG1, CDK2A, and/or CRABP1 hypermethylation. In the second pathway, deficiency in the MMR pathway is an early event arising in macroscopically normal gut surface before adenoma formation. In the third pathway, which is associated with mutations in CTNNB1 and/or TP53, the adenoma step is skipped, with fast and invasive tumor growth occurring in an MMR-deficient context. Here, we describe the association between molecular and histological features in these three routes of colorectal carcinogenesis in Lynch patients. The findings summarized in this review may guide the use of individualized surveillance guidelines based on a patient’s carcinogenesis subtype.
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Affiliation(s)
- Martina Lepore Signorile
- Medical Genetics, National Institute for Gastroenterology, IRCCS “S. de Bellis” Research Hospital, 70013 Castellana Grotte, Italy; (M.L.S.); (V.D.)
| | - Vittoria Disciglio
- Medical Genetics, National Institute for Gastroenterology, IRCCS “S. de Bellis” Research Hospital, 70013 Castellana Grotte, Italy; (M.L.S.); (V.D.)
| | - Gabriella Di Carlo
- Department of Emergency and Organ Transplantation, Section of Pathology, University of Bari Aldo Moro, 70124 Bari, Italy;
| | - Antonio Pisani
- Gastroenterology and Digestive Endoscopy Unit, National Institute for Gastroenterology, IRCCS “S. de Bellis” Research Hospital, 70013 Castellana Grotte, Italy;
| | - Cristiano Simone
- Medical Genetics, National Institute for Gastroenterology, IRCCS “S. de Bellis” Research Hospital, 70013 Castellana Grotte, Italy; (M.L.S.); (V.D.)
- Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari Aldo Moro, 70124 Bari, Italy
- Correspondence: (C.S.); (G.I.)
| | - Giuseppe Ingravallo
- Department of Emergency and Organ Transplantation, Section of Pathology, University of Bari Aldo Moro, 70124 Bari, Italy;
- Correspondence: (C.S.); (G.I.)
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13
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Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg 2021; 108:484-498. [PMID: 34043773 PMCID: PMC10364896 DOI: 10.1002/bjs.11902] [Citation(s) in RCA: 138] [Impact Index Per Article: 34.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2020] [Revised: 05/16/2020] [Accepted: 06/14/2020] [Indexed: 12/11/2022]
Abstract
BACKGROUND Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopic surveillance and the heterogeneity of cancer risk between genotypes. The need for gene- and gender-specific guidelines has been acknowledged. METHODS The European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) developed a multidisciplinary working group consisting of surgeons, clinical and molecular geneticists, pathologists, epidemiologists, gastroenterologists, and patient representation to conduct a graded evidence review. The previous Mallorca guideline format was used to revise the clinical guidance. Consensus for the guidance statements was acquired by three Delphi voting rounds. RESULTS Recommendations for clinical and molecular identification of Lynch syndrome, surgical and endoscopic management of Lynch syndrome-associated colorectal cancer, and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum. Manchester consensus guidelines for gynaecological management were endorsed. Executive and layperson summaries were provided. CONCLUSION The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented.
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Affiliation(s)
- T T Seppälä
- Department of Surgery, Helsinki University Hospital, and University of Helsinki, Helsinki, Finland.,Department of Surgical Oncology, Johns Hopkins Hospital, Baltimore Maryland, USA
| | - A Latchford
- Department of Cancer and Surgery, Imperial College London, UK.,St Mark's Hospital, London North West Healthcare NHS Trust, London, UK
| | - I Negoi
- Department of Surgery, Emergency Hospital of Bucharest, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
| | | | - R Jimenez-Rodriguez
- Department of Surgery, Hospital Universitario Virgen del Rocío, Seville, Spain
| | - L Sánchez-Guillén
- Colorectal Unit, Department of General Surgery, Elche University General Hospital Elche, Alicante, Spain
| | - D G Evans
- Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, University of Manchester, Manchester University Hospitals NHS Foundation Trust, UK
| | - N Ryan
- Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK.,Centre for Academic Women's Health, University of Bristol, Bristol, UK
| | - E J Crosbie
- Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK
| | - M Dominguez-Valentin
- Department of Tumour Biology, Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
| | - J Burn
- Faculty of Medical Sciences, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
| | - M Kloor
- Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Germany.,Cooperation Unit Applied Tumour Biology, German Cancer Research Centre, Heidelberg, Germany
| | - M von Knebel Doeberitz
- Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Germany.,Cooperation Unit Applied Tumour Biology, German Cancer Research Centre, Heidelberg, Germany
| | - F J B van Duijnhoven
- Division of Human Nutrition and Health, Wageningen University and Research, Wageningen, the Netherlands
| | - P Quirke
- Pathology and Data Analytics, School of Medicine, University of Leeds, Leeds, UK
| | - J R Sampson
- Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, UK
| | - P Møller
- Department of Tumour Biology, Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.,University of Witten/Herdecke, Witten, Germany
| | - G Möslein
- Centre for Hereditary Tumours, Bethesda Hospital, Duisburg, Germany.,University of Witten/Herdecke, Witten, Germany
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14
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Perrod G, Rahmi G, Cellier C. Colorectal cancer screening in Lynch syndrome: Indication, techniques and future perspectives. Dig Endosc 2021; 33:520-528. [PMID: 32314431 DOI: 10.1111/den.13702] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/24/2020] [Revised: 04/04/2020] [Accepted: 04/14/2020] [Indexed: 12/15/2022]
Abstract
Lynch syndrome (LS) is an inherited predisposition to colorectal cancer (CRC), responsible for 3-5% of all CRC. This syndrome is characterized by the early occurrence of colorectal neoplastic lesions, with variable incidences depending on the type of pathogenic variants in MMR genes (MLH1, MSH2, MSH6, PMS2 and EPCAM) and demographics factors such as gender, body mass index, tobacco use and physical activity. Similar to sporadic cancers, colorectal screening by colonoscopy is efficient because it is associated with a reduction >50% of both CRC incidence and CRC related mortality. To that end, most guidelines recommend high definition screening colonoscopies in dedicated centers, starting at the age of 20-25 years old, with a surveillance interval of 1-2 years. In this review, we discuss the importance of high definition colonoscopies, including the compliance to specific key performance indicators, as well as the expected benefits of specific imaging modalities including virtual chromoendoscopy and dye-spray chromoendoscopy.
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Affiliation(s)
- Guillaume Perrod
- Hepato-gastroenterolgy and Digestive Endoscopy Department, Georges Pompidou European Hospital, APHP. Centre-Université de Paris, Paris, France.,PRED-IdF Network, Georges Pompidou European Hospital, Paris, France
| | - Gabriel Rahmi
- Hepato-gastroenterolgy and Digestive Endoscopy Department, Georges Pompidou European Hospital, APHP. Centre-Université de Paris, Paris, France.,PRED-IdF Network, Georges Pompidou European Hospital, Paris, France
| | - Christophe Cellier
- Hepato-gastroenterolgy and Digestive Endoscopy Department, Georges Pompidou European Hospital, APHP. Centre-Université de Paris, Paris, France.,PRED-IdF Network, Georges Pompidou European Hospital, Paris, France
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15
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Sinonquel P, Eelbode T, Hassan C, Antonelli G, Filosofi F, Neumann H, Demedts I, Roelandt P, Maes F, Bisschops R. Real-time unblinding for validation of a new CADe tool for colorectal polyp detection. Gut 2021; 70:641-643. [PMID: 33046559 DOI: 10.1136/gutjnl-2020-322491] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/09/2020] [Accepted: 07/23/2020] [Indexed: 12/21/2022]
Affiliation(s)
- Pieter Sinonquel
- Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.,Department of Translational Research in Gastrointestinal Diseases (TARGID), KU Leuven, Leuven, Belgium
| | - Tom Eelbode
- Department of Electrical Engineering (ESAT/PSI), Medical Imaging Research Center, KU Leuven, Leuven, Belgium
| | - Cesare Hassan
- Digestive Endoscopy Unit, Nuovo Regina Margherita Hospital, Rome, Italy
| | - Giulio Antonelli
- Digestive Endoscopy Unit, Nuovo Regina Margherita Hospital, Rome, Italy
| | - Federica Filosofi
- Digestive Endoscopy Unit, Nuovo Regina Margherita Hospital, Rome, Italy
| | - Helmut Neumann
- Department of Gastroenterology and Hepatology, University Medical Center Mainz, Mainz, Germany
| | - Ingrid Demedts
- Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.,Department of Translational Research in Gastrointestinal Diseases (TARGID), KU Leuven, Leuven, Belgium
| | - Philip Roelandt
- Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.,Department of Translational Research in Gastrointestinal Diseases (TARGID), KU Leuven, Leuven, Belgium
| | - Frederik Maes
- Department of Electrical Engineering (ESAT/PSI), Medical Imaging Research Center, KU Leuven, Leuven, Belgium
| | - Raf Bisschops
- Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium .,Department of Translational Research in Gastrointestinal Diseases (TARGID), KU Leuven, Leuven, Belgium
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16
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Ahadova A, Seppälä TT, Engel C, Gallon R, Burn J, Holinski-Feder E, Steinke-Lange V, Möslein G, Nielsen M, Ten Broeke SW, Laghi L, Dominguez-Valentin M, Capella G, Macrae F, Scott R, Hüneburg R, Nattermann J, Hoffmeister M, Brenner H, Bläker H, von Knebel Doeberitz M, Sampson JR, Vasen H, Mecklin JP, Møller P, Kloor M. The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance. Int J Cancer 2021; 148:800-811. [PMID: 32683684 DOI: 10.1002/ijc.33224] [Citation(s) in RCA: 60] [Impact Index Per Article: 15.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/06/2020] [Revised: 06/12/2020] [Accepted: 06/24/2020] [Indexed: 12/14/2022]
Abstract
Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk in LS individuals. However, recent independent studies demonstrated that a substantial proportion of LS individuals develop CRC despite regular colonoscopy. The reasons for this surprising observation confirmed by large prospective studies are a matter of debate. In this review, we collect existing evidence from clinical, epidemiological and molecular studies and interpret them with regard to the origins and progression of LS-associated CRC. Alongside with hypotheses addressing colonoscopy quality and pace of progression from adenoma to cancer, we discuss the role of alternative precursors and immune system in LS-associated CRC. We also identify gaps in current knowledge and make suggestions for future studies aiming at improved CRC prevention for LS individuals.
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Affiliation(s)
- Aysel Ahadova
- Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
- Cooperation Unit Applied Tumour Biology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
- Molecular Medicine Partnership Unit (MMPU), European Molecular Biology Laboratory (EMBL), Heidelberg, Germany
| | - Toni T Seppälä
- Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
- Faculty of Medicine, University of Helsinki, Helsinki, Finland
- Surgical Oncology, Johns Hopkins Hospital, Baltimore, Maryland, USA
| | - Christoph Engel
- Department of Statistics and Epidemiology, Institute for Medical Informatics, University of Leipzig, Leipzig, Germany
| | - Richard Gallon
- Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, UK
| | - John Burn
- International Centre for Life, Central Parkway, Newcastle upon, Tyne, UK
| | - Elke Holinski-Feder
- Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany
- Centre of Medical Genetics, Munich, Germany
| | - Verena Steinke-Lange
- Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany
- Centre of Medical Genetics, Munich, Germany
| | - Gabriela Möslein
- Centre for Hereditary Tumors, HELIOS Klinikum Wuppertal, University Witten-Herdecke, Wuppertal, Germany
| | - Maartje Nielsen
- Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands
| | - Sanne W Ten Broeke
- Department of Clinical Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands
| | - Luigi Laghi
- Molecular Gastroenterology and Department of Gastroenterology, Humanitas Clinical and Research Center, Milan, Italy
- Department of Medicine and Surgery, University of Parma, Parma, Italy
| | - Mev Dominguez-Valentin
- Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
| | - Gabriel Capella
- Hereditary Cancer Program, Institut Catala d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain
| | - Finlay Macrae
- Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia
| | - Rodney Scott
- University of Newcastle and the Hunter Medical Research Institute, Callaghan, Australia
| | - Robert Hüneburg
- Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany
- National Centre for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany
| | - Jacob Nattermann
- Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany
- National Centre for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany
| | - Michael Hoffmeister
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany
| | - Hermann Brenner
- Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany
- German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany
| | - Hendrik Bläker
- Institute of Pathology, University Hospital Leipzig, Leipzig, Germany
| | - Magnus von Knebel Doeberitz
- Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
| | - Julian R Sampson
- Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK
| | - Hans Vasen
- Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Leiden, The Netherlands
| | - Jukka-Pekka Mecklin
- Department of Surgery, Central Finland Central Hospital, Jyväskylä, Finland
- Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland
| | - Pål Møller
- Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
| | - Matthias Kloor
- Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
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17
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Rivero-Sanchez L, Ortiz O, Pellise M. Chromoendoscopy Techniques in Imaging of Colorectal Polyps and Cancer: Overview and Practical Applications for Detection and Characterization. TECHNIQUES AND INNOVATIONS IN GASTROINTESTINAL ENDOSCOPY 2021; 23:30-41. [DOI: 10.1016/j.tige.2020.10.006] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/03/2025]
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18
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Abdelbary M, Hamdy S, Shehab H, ElGarhy N, Menesy M, Marzaban R. Colonoscopic techniques in polyp detection: An Egyptian study. REVISTA DE GASTROENTEROLOGÍA DE MÉXICO 2021. [DOI: 10.1016/j.rgmxen.2020.02.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
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19
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Sinonquel P, Eelbode T, Bossuyt P, Maes F, Bisschops R. Artificial intelligence and its impact on quality improvement in upper and lower gastrointestinal endoscopy. Dig Endosc 2021; 33:242-253. [PMID: 33145847 DOI: 10.1111/den.13888] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/28/2020] [Revised: 10/14/2020] [Accepted: 11/01/2020] [Indexed: 12/24/2022]
Abstract
Artificial intelligence (AI) and its application in medicine has grown large interest. Within gastrointestinal (GI) endoscopy, the field of colonoscopy and polyp detection is the most investigated, however, upper GI follows the lead. Since endoscopy is performed by humans, it is inherently an imperfect procedure. Computer-aided diagnosis may improve its quality by helping prevent missing lesions and supporting optical diagnosis for those detected. An entire evolution in AI systems has been established in the last decades, resulting in optimization of the diagnostic performance with lower variability and matching or even outperformance of expert endoscopists. This shows a great potential for future quality improvement of endoscopy, given the outstanding diagnostic features of AI. With this narrative review, we highlight the potential benefit of AI to improve overall quality in daily endoscopy and describe the most recent developments for characterization and diagnosis as well as the recent conditions for regulatory approval.
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Affiliation(s)
- Pieter Sinonquel
- Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.,Departments of, Department of, Translational Research in Gastrointestinal Diseases (TARGID), KU Leuven, Leuven, Belgium
| | - Tom Eelbode
- Medical Imaging Research Center (MIRC), University Hospitals Leuven, Leuven, Belgium.,Department of Electrical Engineering (ESAT/PSI), KU Leuven, Leuven, Belgium
| | - Peter Bossuyt
- Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.,Department of Gastroenterology and Hepatology, Imelda Hospital, Bonheiden, Belgium
| | - Frederik Maes
- Medical Imaging Research Center (MIRC), University Hospitals Leuven, Leuven, Belgium.,Department of Electrical Engineering (ESAT/PSI), KU Leuven, Leuven, Belgium
| | - Raf Bisschops
- Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.,Departments of, Department of, Translational Research in Gastrointestinal Diseases (TARGID), KU Leuven, Leuven, Belgium
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20
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Abdelbary M, Hamdy S, Shehab H, ElGarhy N, Menesy M, Marzaban R. Colonoscopic techniques in polyp detection: An Egyptian study. REVISTA DE GASTROENTEROLOGÍA DE MÉXICO 2020; 86:36-43. [PMID: 32651028 DOI: 10.1016/j.rgmx.2020.02.004] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/09/2020] [Revised: 02/17/2020] [Accepted: 02/26/2020] [Indexed: 02/06/2023]
Abstract
INTRODUCTION AND AIMS The polyp detection rate (PDR) is defined as the percentage of colonoscopies in which one or more polyps are detected, and has been shown to be highly correlated with the adenoma detection rate. The aim of the present study was to evaluate the PDR at the Endoscopy Unit of the Kasr Al-Ainy Hospital, Cairo University, Egypt, through the i-SCAN, Endocuff, and underwater colonoscopy techniques. MATERIALS AND METHODS The study was conducted on 100 Egyptian subjects over 50 years of age. Their polyp detection rate was measured through 4 different colonoscopic techniques. An equal number of patients were divided into 4 groups: i-SCAN, Endocuff, underwater colonoscopy, and controls. The control group was examined using standard white light colonoscopy. The colonoscopy evaluation included the type of agent utilized for bowel preparation, preparation grade, and colonoscopy withdrawal time. RESULTS The general PDR was 48%. The i-SCAN technique had the highest rate (56%), followed by the underwater (52%) and the Endocuff (48%) techniques. CONCLUSION The i-SCAN and underwater colonoscopy techniques produced higher PDR than the Endocuff-assisted and standard techniques, but with no statistical significance.
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Affiliation(s)
- M Abdelbary
- Medicina Tropical, Facultad de Medicina, Universidad de El Cairo, El Cairo, Egipto
| | - S Hamdy
- Medicina Tropical, Facultad de Medicina, Universidad de El Cairo, El Cairo, Egipto
| | - H Shehab
- Medicina Tropical, Facultad de Medicina, Universidad de El Cairo, El Cairo, Egipto
| | - N ElGarhy
- Medicina Tropical, Facultad de Medicina, Universidad de El Cairo, El Cairo, Egipto
| | - M Menesy
- Medicina Tropical, Facultad de Medicina, Universidad de El Cairo, El Cairo, Egipto
| | - R Marzaban
- Medicina Tropical, Facultad de Medicina, Universidad de El Cairo, El Cairo, Egipto.
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21
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Rivero-Sánchez L, Arnau-Collell C, Herrero J, Remedios D, Cubiella J, García-Cougil M, Alvarez V, Albéniz E, Calvo P, Gordillo J, Puig I, López-Vicente J, Huerta A, López-Cerón M, Salces I, Peñas B, Parejo S, Rodriguez de Santiago E, Herraiz M, Carretero C, Gimeno-Garcia AZ, Saperas E, Alvarez-Urturi C, Moreira R, Rodriguez de Miguel C, Ocaña T, Moreira L, Carballal S, Sánchez A, Jung G, Castells A, Llach J, Balaguer F, Pellisé M. White-Light Endoscopy Is Adequate for Lynch Syndrome Surveillance in a Randomized and Noninferiority Study. Gastroenterology 2020; 158:895-904.e1. [PMID: 31520613 DOI: 10.1053/j.gastro.2019.09.003] [Citation(s) in RCA: 26] [Impact Index Per Article: 5.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/31/2019] [Revised: 08/30/2019] [Accepted: 09/05/2019] [Indexed: 01/07/2023]
Abstract
BACKGROUND & AIMS Dye-based pancolonic chromoendoscopy is recommended for colorectal cancer surveillance in patients with Lynch syndrome. However, there is scarce evidence to support its superiority to high-definition white-light endoscopy. We performed a prospective study assess whether in the hands of high detecting colonoscopists, high-definition, white-light endoscopy is noninferior to pancolonic chromoendoscopy for detection of adenomas in patients with Lynch syndrome. METHODS We conducted a parallel controlled study, from July 2016 through January 2018 at 14 centers in Spain of adults with pathogenic germline variants in mismatch repair genes (60% women; mean age, 47 ± 14 years) under surveillance. Patients were randomly assigned to groups that underwent high-definition white-light endoscopy (n = 128) or pancolonic chromoendoscopy (n = 128) evaluations by 24 colonoscopists who specialized in detection of colorectal lesions in high-risk patients for colorectal cancer. Adenoma detection rates (defined as the proportion of patients with at least 1 adenoma) were compared between groups, with a noninferiority margin (relative difference) of 15%. RESULTS We found an important overlap of confidence intervals (CIs) and no significant difference in adenoma detection rates by pancolonic chromoendoscopy (34.4%; 95% CI 26.4%-43.3%) vs white-light endoscopy (28.1%; 95% CI 21.1%-36.4%; P = .28). However, pancolonic chromoendoscopy detected serrated lesions in a significantly higher proportion of patients (37.5%; 95% CI 29.5-46.1) than white-light endoscopy (23.4%; 95% CI 16.9-31.4; P = .01). However, there were no significant differences between groups in proportions of patients found to have serrated lesions of 5 mm or larger (9.4% vs 7.0%; P = .49), of proximal location (11.7% vs 10.2%; P = .68), or sessile serrated lesions (3.9% vs 5.5%; P = .55), respectively. Total procedure and withdrawal times with pancolonic chromoendoscopy (30.7 ± 12.8 minutes and 18.3 ± 7.6 minutes, respectively) were significantly longer than with white-light endoscopy (22.4 ± 8.7 minutes and 13.5 ± 5.6 minutes; P < .001). CONCLUSIONS In a randomized parallel trial, we found that for Lynch syndrome surveillance, high-definition white-light endoscopy is not inferior to pancolonic chromoendoscopy if performed by experienced and dedicated endoscopists. ClinicalTrials.gov no: NCT02951390.
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Affiliation(s)
- Liseth Rivero-Sánchez
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain
| | - Coral Arnau-Collell
- Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
| | - Jesús Herrero
- Department of Gastroenterology, Complexo Hospitalario Universitario de Ourense, Instituto de Investigación Biomédica Galicia Sur, CIBERehd, Ourense, Spain
| | - David Remedios
- Department of Gastroenterology, Complexo Hospitalario Universitario de Ourense, Instituto de Investigación Biomédica Galicia Sur, CIBERehd, Ourense, Spain
| | - Joaquín Cubiella
- Department of Gastroenterology, Complexo Hospitalario Universitario de Ourense, Instituto de Investigación Biomédica Galicia Sur, CIBERehd, Ourense, Spain
| | - Marta García-Cougil
- Department of Gastroenterology, Complexo Hospitalario Universitario de Ourense, Instituto de Investigación Biomédica Galicia Sur, CIBERehd, Ourense, Spain
| | - Victoria Alvarez
- Complejo Hospitalario de Pontevedra, Department of Gastroenterology, Pontevedra, Spain
| | - Eduardo Albéniz
- Complejo Hospitalario de Navarra, Digestive System Service, Endoscopy Unit, Navarrabiomed, Universidad Pública de Navarra, IdiSNa, Pamplona, Spain
| | - Patricia Calvo
- Complejo Hospitalario de Navarra, Nurse High-Risk Clinic, Pamplona, Spain
| | - Jordi Gordillo
- Hospital de la Santa Creu i Sant Pau, Gastroenterology Unit, Barcelona, Spain
| | - Ignasi Puig
- Althaia, Xarxa Assistencial Universitària de Manresa, Digestive System Service, Manresa, Spain
| | - Jorge López-Vicente
- Hospital Universitario de Móstoles, Digestive System Service, Móstoles, Spain
| | - Alain Huerta
- Hospital Galdakao-Usansolo, Department of Gastroenterology, Galdakao, Spain
| | - María López-Cerón
- Hospital Universitario 12 de Octubre, Digestive System Service, Madrid, Spain
| | - Inmaculada Salces
- Hospital Universitario 12 de Octubre, Digestive System Service, Madrid, Spain
| | - Beatriz Peñas
- Hospital Universitario Ramón y Cajal, Department of Gastroenterology, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Madrid, Spain
| | - Sofía Parejo
- Hospital Universitario Ramón y Cajal, Department of Gastroenterology, Madrid, Spain
| | | | - Maite Herraiz
- University of Navarra Clinic-IdiSNA, Gastroenterology Department, Pamplona, Spain
| | - Cristina Carretero
- University of Navarra Clinic-IdiSNA, Gastroenterology Department, Pamplona, Spain
| | | | - Esteban Saperas
- Hospital General de Catalunya, Digestive System Service, Sant Cugat del Vallès, Spain
| | | | - Rebeca Moreira
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain
| | | | - Teresa Ocaña
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain
| | - Leticia Moreira
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain
| | - Sabela Carballal
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain
| | - Ariadna Sánchez
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain
| | - Gerhard Jung
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain
| | - Antoni Castells
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain
| | - Josep Llach
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain
| | - Francesc Balaguer
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain
| | - María Pellisé
- Hospital Clinic of Barcelona, Department of Gastroenterology, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain.
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22
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Har-Noy O, Yung DE, Koulaouzidis A, Eliakim R, Kopylov U, Avidan B, Katz LH. Chromoendoscopy or white light endoscopy for neoplasia detection in Lynch syndrome, a meta-analysis. Dig Liver Dis 2019; 51:1515-1521. [PMID: 31526715 DOI: 10.1016/j.dld.2019.07.018] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/12/2018] [Revised: 07/22/2019] [Accepted: 07/25/2019] [Indexed: 02/06/2023]
Abstract
BACKGROUND Lynch syndrome carries an increased risk of colorectal neoplasia, hence annual surveillance colonoscopy is recommended. This study aimed to compare the diagnostic yields of image enhancement modalities for colorectal neoplasia in patients with Lynch syndrome. METHODS Meta-analysis of pooled ratios of lesion detection rates (RRs) and odds ratios (ORs) with 95% confidence intervals (CIS), comparing white light endoscopy (WLE) and chromoendoscopy (ChE). RESULTS Four studies comparing WLE to ChE were analyzed. ChE fared better than WLE in overall lesion detection (RR 1.97, 95% CI 1.63-2.38) and detection of adenomas (RR 1.53, 95% CI 1.07-2.17), flat lesions (RR 3.4, 95% CI 2.47-4.67) and proximally-located lesions (RR 2.93, 95% CI 1.91-4.5). The odds of a patient having any lesion found were higher in ChE compared to WLE (OR 2.42, 95% CI 1.56-3.75). The odds of a patient having adenoma(s) found on endoscopy were not significantly higher in chromoendoscopy compared to white light endoscopy (OR 1.81, 95% CI 0.65-5.01). CONCLUSION Using standard definition technology, ChE allows detection of more lesions, especially adenomas, flat lesions and proximal lesions in Lynch syndrome patients, compared to WLE. The results show that surveillance colonoscopy of Lynch syndrome patients should be performed using ChE.
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Affiliation(s)
- Ofir Har-Noy
- Gastroenterology Department, Sheba Medical Center, Ramat-Gan, Israel; Department of Medicine A, Sheba Medical Center, Ramat-Gan, Israel.
| | - Diana E Yung
- Centre for Liver & Digestive Disorders, The Royal Infirmary of Edinburgh, Edinburgh, United Kingdom
| | - Anastasios Koulaouzidis
- Centre for Liver & Digestive Disorders, The Royal Infirmary of Edinburgh, Edinburgh, United Kingdom
| | - Rami Eliakim
- Gastroenterology Department, Sheba Medical Center, Ramat-Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Israel
| | - Uri Kopylov
- Gastroenterology Department, Sheba Medical Center, Ramat-Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Israel
| | - Benjamin Avidan
- Gastroenterology Department, Sheba Medical Center, Ramat-Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Israel
| | - Lior H Katz
- Gastroenterology Department, Sheba Medical Center, Ramat-Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Israel
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23
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Haanstra JF, Dekker E, Cats A, Nagengast FM, Hardwick JC, Vanhoutvin SA, de Vos Tot Nederveen Cappel WH, Vasen HF, Kleibeuker JH, Koornstra JJ. Effect of chromoendoscopy in the proximal colon on colorectal neoplasia detection in Lynch syndrome: a multicenter randomized controlled trial. Gastrointest Endosc 2019; 90:624-632. [PMID: 31028782 DOI: 10.1016/j.gie.2019.04.227] [Citation(s) in RCA: 20] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/19/2018] [Accepted: 04/16/2019] [Indexed: 12/11/2022]
Abstract
BACKGROUND AND AIMS Patients with Lynch syndrome (LS) undergo regular surveillance by colonoscopy because of an increased risk of colorectal neoplasia, particularly in the proximal colon. Chromoendoscopy (CE) has been reported to improve neoplasia detection compared with conventional white-light endoscopy (WLE), but evidence is limited. Our aim was to investigate the effect of CE in the proximal colon on detection of neoplastic lesions during surveillance in LS. METHODS This was a multicenter prospective randomized controlled trial of 246 patients with LS who were randomly assigned (1:1) to conventional WLE (n = 123) or colonoscopy with CE in the proximal colon (n = 123), stratified for previous colorectal adenomas and enrolling center. Two years after baseline colonoscopy, patients underwent colonoscopy with CE in the proximal colon. The primary outcome was the proportion of patients with at least one neoplastic lesion at baseline and after 2 years. RESULTS Neoplasia detection rates at baseline colonoscopy were 27% for WLE versus 30% for CE (odds ratio [OR], 1.23; 95% confidence interval [CI], 0.69-2.2; P = .56). In the proximal colon, neoplasia detection rates were 16% for WLE versus 24% for CE (OR, 1.6; 95% CI, 0.9-3.1; P = .13). Total procedure time was 9 minutes longer in the CE group. At follow-up after 2 years, neoplasia detection rates were similar in both groups: 26% for the original WLE group versus 28% for the CE group (OR, 1.1; P = .81). CONCLUSIONS CE in the proximal colon for LS surveillance was not superior to WLE with respect to the initial detection of neoplasia, and not associated with reduced neoplasia detection rates after 2 years. The value of CE remains to be established. (Clinical trial registration number: NCT00905710.).
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Affiliation(s)
- Jasmijn F Haanstra
- Department of Gastroenterology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Gastroenterology, Isala Clinics, Zwolle, the Netherlands
| | - Evelien Dekker
- Department of Gastroenterology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
| | - Annemieke Cats
- Department of Gastroenterology, the Netherlands Cancer Institute, Amsterdam, the Netherlands
| | - Fokko M Nagengast
- Department of Gastroenterology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
| | - James C Hardwick
- Department of Gastroenterology, Leiden University Medical Center, Leiden, the Netherlands
| | - Steven A Vanhoutvin
- Department of Gastroenterology, the Netherlands Cancer Institute, Amsterdam, the Netherlands
| | | | - Hans F Vasen
- Department of Gastroenterology, Leiden University Medical Center, Leiden, the Netherlands; The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands
| | - Jan H Kleibeuker
- Department of Gastroenterology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
| | - Jan J Koornstra
- Department of Gastroenterology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
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Clarke WT, Feuerstein JD. Colorectal cancer surveillance in inflammatory bowel disease: Practice guidelines and recent developments. World J Gastroenterol 2019; 25:4148-4157. [PMID: 31435169 PMCID: PMC6700690 DOI: 10.3748/wjg.v25.i30.4148] [Citation(s) in RCA: 114] [Impact Index Per Article: 19.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/03/2019] [Revised: 06/14/2019] [Accepted: 07/03/2019] [Indexed: 02/06/2023] Open
Abstract
Patients with long-standing inflammatory bowel disease (IBD) involving at least 1/3 of the colon are at increased risk for colorectal cancer (CRC). Advancements in CRC screening and surveillance and improved treatment of IBD has reduced CRC incidence in patients with ulcerative colitis and Crohn’s colitis. Most cases of CRC are thought to arise from dysplasia, and recent evidence suggests that the majority of dysplastic lesions in patients with IBD are visible, in part thanks to advancements in high definition colonoscopy and chromoendoscopy. Recent practice guidelines have supported the use of chromoendoscopy with targeted biopsies of visible lesions rather than traditional random biopsies. Endoscopists are encouraged to endoscopically resect visible dysplasia and only recommend surgery when a complete resection is not possible. New technologies such as virtual chromoendoscopy are emerging as potential tools in CRC screening. Patients with IBD at increased risk for developing CRC should undergo surveillance colonoscopy using new approaches and techniques.
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Affiliation(s)
- William T Clarke
- Department of Medicine and Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, United States
| | - Joseph D Feuerstein
- Department of Medicine and Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, United States
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25
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CD31-positive microvessel density within adenomas of Lynch Syndrome patients is similar compared to adenomas of non-Lynch patients. Endosc Int Open 2019; 7:E701-E707. [PMID: 31073537 PMCID: PMC6506331 DOI: 10.1055/a-0832-8283] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/25/2018] [Accepted: 12/04/2018] [Indexed: 12/13/2022] Open
Abstract
Background and study aims Microsatellite instability accelerates colorectal cancer development in patients with Lynch syndrome (LS). Previous research showed that virtual chromoendoscopy increases detection of adenomas during colonoscopy surveillance of patients with LS. Because previous research revealed that Lynch patients have an increased vascular network in the oral mucosa, we hypothesized that increased vascularization of LS-associated adenomas is the cause of better detection with virtual chromoendoscopy. Patients and methods In this pilot study, patients with LS having a proven germline mutation were selected from two tertiary referral hospitals and non-LS patients from an outpatient colonoscopy center. Adenomas from patients with LS were exactly matched in size and histology with adenomas from non-LS patients. Initial adenoma diagnosis was confirmed by a specialist pathologist. All adenomas were stained with CD31 and adenomatous tissue was annotated by the specialist pathologist. Image analysis of CD31-positive microvessel density was conducted using FIJI software. Results Colonoscopy of 63 patients with LS and 24 non-LS patients provided 40 adenomas that could be exactly matched in size and histology. In image-analysis, the CD31-positive microvessel density (2.49 % vs. 2.47 %, P = 0.96), the average size of CD31-positive structures (514 μm 2 vs. 523 μm 2 , P = 0.26) nor the amount of vascular structures per mm 2 (183 vs. 176, P = 0.50) differed between adenomas of LS patients and non-Lynch patients. Conclusion The outcomes of this pilot case-control study did not provide further insights into the mechanism of increased adenoma detection in LS patients using virtual chromoendoscopy techniques.
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26
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Abstract
Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy.
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27
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Update on the role of chromoendoscopy in colonoscopic surveillance of patients with Lynch syndrome. Eur J Gastroenterol Hepatol 2018; 30:1116-1124. [PMID: 30044237 DOI: 10.1097/meg.0000000000001214] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/20/2023]
Abstract
(Virtual) chromoendoscopy (CE) improves the detection of small or flat colorectal polyps; however, the evidence in high-risk groups, such as patients of Lynch syndrome (LS), is low. Our aim was to identify and update the evidence for the recommendations regarding surveillance of LS patients, for which the current underlying evidence for use of (virtual) CE was explored. A systematic literature search in PubMed, EMBASE, and Cochrane library was conducted, for all studies comparing (virtual) CE with white-light endoscopy in LS patients. Studies are explained in detail, with special attention to study design, type of (virtual) CE, and timing of polypectomy. Eight studies (409 patients) were included. Five were nonrandomized back-to-back studies and three were randomized back-to-back studies (one parallel and two cross-over design). In six studies the polyps were directly removed, while in two studies polyps were removed only during the second caecal withdrawal. Five studies researched CE with indigo carmine and three studies investigated virtual CE. Due to the heterogeneity between studies, no statistical analysis could be performed. There was a large variety in study design, timing of polypectomy, different (virtual) CE techniques and the patients that were included. Based on current literature, no firm conclusions can be drawn with respect to the additional value of (virtual) CE in the surveillance of patients with LS. However, training of endoscopists in detection and removal of nonpolypoid colorectal neoplasms is crucial, as well as stricter adherence to LS surveillance guidelines in daily clinical practice. For future research, standardization in study designs is needed.
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28
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Yoshida N, Naito Y, Yasuda R, Murakami T, Hirose R, Ogiso K, Inada Y, Dohi O, Kamada K, Uchiyama K, Handa O, Konishi H, Rani RA, Kishimoto M, Konishi E, Itoh Y. Linked color imaging improves the visibility of various featured colorectal polyps in an endoscopist's visibility and color difference value. Int J Colorectal Dis 2017; 32:1253-1260. [PMID: 28725959 DOI: 10.1007/s00384-017-2855-z] [Citation(s) in RCA: 31] [Impact Index Per Article: 3.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 07/07/2017] [Indexed: 02/06/2023]
Abstract
PURPOSE Linked color imaging (LCI) by laser endoscopy is a novel narrow band light observation. In this study, we analyzed the efficacy of LCI for improving the various featured colorectal polyp's visibility utilizing a subjective endoscopist's visibility scoring and objective color difference (CD) value. METHODS We retrospectively reviewed two pictures both with white light (WL) and LCI for 54 consecutive neoplastic polyps 2-20 mm in size. All pictures were evaluated by four endoscopists according to a published polyp visibility score from four (excellent visibility) to one (poor visibility). Additionally, we calculated CD value between each polyp and surrounding mucosa in LCI and WL using an original software. RESULTS The mean polyp visibility scores of LCI (3.11 ± 1.05) were significantly higher than those of WL (2.50 ± 1.09, P < 0.001). The ratio of an endoscopist's poor visibility (polyp visibility scores 1 and 2) was significantly lower in LCI (27.9%) than WL (55.6%, P < 0.001). With respect to the CD analysis, the CD value of LCI was significantly higher than that of WL (33.3 ± 13.9 vs. 20.7 ± 13.6, P < 0.001). In a subgroup analysis, the polyp visibility scores and CD values of LCI about 24 diminutive polyps (≤5 mm) were higher than those of WL (3.29 ± 0.99 vs. 2.12 ± 0.99, P < 0.001; 31.6 ± 12.8 vs. 14.7 ± 7.6, P < 0.001). Additionally, the polyp visibility scores and CD values of LCI for polyps with any location, size, histology, and morphology were significantly higher than those of WL. CONCLUSIONS LCI improved the various featured polyp's visibility compared to WL in both polyp visibility scores and CD value.
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Affiliation(s)
- Naohisa Yoshida
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
| | - Yuji Naito
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Ritsu Yasuda
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Takaaki Murakami
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Ryohei Hirose
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Kiyoshi Ogiso
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Yutaka Inada
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Osamu Dohi
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Kazuhiro Kamada
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Kazuhiko Uchiyama
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Osamu Handa
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Hideyuki Konishi
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
| | - Rafiz Abdul Rani
- Gastroenterology Unit, Faculty of Medicine, Universiti Teknologi MARA, Selangor, Malaysia
| | - Mitsuo Kishimoto
- Department of Surgical Pathology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
| | - Eiichi Konishi
- Department of Surgical Pathology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
| | - Yoshito Itoh
- Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
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