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1
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Martinez R, Lezcano M, Randhawa J, Aijaz S, Mazouni YA, Altamimi A, Camacho-Perez N, Othman F, O’Neill AM, Simon JA. Extragastrointestinal Stromal Tumor Mimicking Appendicitis: A Case Study. AMERICAN JOURNAL OF CASE REPORTS 2025; 26:e944665. [PMID: 39967249 PMCID: PMC11851347 DOI: 10.12659/ajcr.944665] [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: 03/28/2024] [Revised: 12/03/2024] [Accepted: 10/29/2024] [Indexed: 02/20/2025]
Abstract
BACKGROUND Extragastrointestinal stromal tumors (E-GISTs) are a rare subtype of gastrointestinal stromal tumors (GISTs) that develop outside of the gastrointestinal tract from interstitial cells of Cajal, exhibiting specific markers such as CD117 and DOG1. These tumors often present diagnostic challenges, particularly when their clinical manifestations mimic other abdominal conditions, such as acute appendicitis. CASE REPORT A 75-year-old male patient with a history of multiple comorbidities presented to the Emergency Department with symptoms of chronic pain in the right lower quadrant. Imaging studies, including computed tomography scans, revealed a large heterogeneous density mass measuring 11.3×9.2 cm in the right lower quadrant and a dilated appendix with wall thickening. Subsequent surgical resection with right hemicolectomy and primary anastomosis was performed, and postoperative considerations included adjuvant therapy with imatinib, due to spindle cell morphology and high mitotic activity. Histopathological examination and immunohistochemical staining confirmed the diagnosis, showing positive CD117, DOG1, Bcl-2, D2-40, and WT1 markers. CONCLUSIONS This case report aims to highlight the complexities in diagnosing E-GISTs with atypical presentations and emphasizes the critical role of comprehensive imaging and histopathological assessments in achieving an accurate diagnosis and guiding appropriate management strategies. The successful diagnosis and management highlight the critical role of imaging modalities and immunohistochemical analysis in guiding treatment decisions, while postoperative care, including targeted therapy, is crucial for reducing the risk of recurrence and improving patient outcomes. Future research should focus on optimizing postoperative management strategies and investigating the potential of intraoperative biopsies for tumors abutting adjacent structures.
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Affiliation(s)
- Ricardo Martinez
- School of Medicine, Saint George’s University, St. George’s, Grenada, West Indies
| | - Michael Lezcano
- School of Medicine, Saint George’s University, St. George’s, Grenada, West Indies
| | - Jonak Randhawa
- School of Medicine, Saint George’s University, St. George’s, Grenada, West Indies
| | - Shahryar Aijaz
- School of Medicine, Saint George’s University, St. George’s, Grenada, West Indies
| | - Yara Al Mazouni
- School of Medicine, Saint George’s University, St. George’s, Grenada, West Indies
| | - Ahmed Altamimi
- School of Medicine, Saint George’s University, St. George’s, Grenada, West Indies
- Department of Surgery, Delray Medical Center, Delray Beach, FL, USA
| | - Norka Camacho-Perez
- School of Medicine, Saint George’s University, St. George’s, Grenada, West Indies
| | - Feras Othman
- Department of Surgery, Larkin Hospital, Miami, FL, USA
| | | | - Joshua A. Simon
- Department of Surgery, Delray Medical Center, Delray Beach, FL, USA
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2
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Arzoun H, Srinivasan M, Adam M, Thomas SS, Kuta A, Sandoval S. Evaluation of and Current Trends in the Management of Gastrointestinal Stromal Tumors: A Systematic Review. Cureus 2022; 14:e26848. [PMID: 35847170 PMCID: PMC9281617 DOI: 10.7759/cureus.26848] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/14/2022] [Indexed: 11/05/2022] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are soft-tissue sarcomas that can occur anywhere in the digestive tract, with the stomach and small intestine being the most common locations. Because no imaging modalities diagnose GIST unequivocally, histological and immunohistochemical confirmation is usually required. Most GISTs are discovered by chance; hence, determining this condition's actual frequency can be challenging. Since diagnosing the tumor could be difficult, including GIST in the differential diagnosis is crucial. The objective of this review is to explore the multiple treatment options for this tumor and provide clinicians with more information on the evolving treatment modalities, which in the future could be a possible solution to cure GIST ultimately. After exploring several studies, the authors conclude that early detection is critical since the treatment depends on the tumor size, mitotic rate, and location. Medical management using targeted therapy approved by the United States Food and Drug Administration (FDA) include tyrosine kinase inhibitors such as imatinib, sunitinib, and regorafenib. Surgical resection of the tumor is also done in cases with localized tumors. Standard chemotherapy and radiotherapy are not commonly used to treat GIST patients. However, radiotherapy may be used as a palliative therapy to ease pain (such as bone pain) or control bleeding. Additional research is needed to establish potential therapeutic targets that will result in higher and longer-term response rates.
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Affiliation(s)
- Hadia Arzoun
- Internal Medicine, St. Bernards Medical Center, Jonesboro, USA
- Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA
| | - Mirra Srinivasan
- Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA
| | - Mona Adam
- Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA
| | - Siji S Thomas
- Internal Medicine, St. Bernards Medical Center, Jonesboro, USA
| | - Amber Kuta
- Internal Medicine, St. Bernards Medical Center, Jonesboro, USA
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3
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Du X, Zhang M, Zhang S, Tian F, Wen T, Liu L. Myocardial Damage in a Highly Suspected Case With Paraneoplastic Pemphigus: A Case Report and Literature Review. Front Med (Lausanne) 2022; 9:917050. [PMID: 35770015 PMCID: PMC9234257 DOI: 10.3389/fmed.2022.917050] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2022] [Accepted: 05/12/2022] [Indexed: 11/18/2022] Open
Abstract
Paraneoplastic pemphigus (PNP) is a rare mucocutaneous autoimmune disease. It has multiple clinical accompanied symptoms by affecting various types of epithelia, including the gastrointestinal and respiratory tract. However, an extensive review of the literature found no cases of PNP associated with myocardial damage. Here, we present a 56-year-old male patient with clinically and histopathologically typical paraneoplastic pemphigus (PNP), who had sustained myocardial injury due to non-cardiac disease involvement. Therefore, we suppose that, when persistent cardiac necrosis markers are elevated in patients with paraneoplastic pemphigus (PNP), the possibility of concomitant myocardial damage should get more attention from clinicians to obtain quick diagnosis and treatment.
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Affiliation(s)
- Xiao Du
- Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, Changsha, China
- Research Institute of Blood Lipid and Atherosclerosis, Central South University, Changsha, China
- Modern Cardiovascular Disease Clinical Technology Research Center of Hunan Province, Changsha, China
- Cardiovascular Disease Research Center of Hunan Province, Changsha, China
| | - Miao Zhang
- Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, Changsha, China
- Research Institute of Blood Lipid and Atherosclerosis, Central South University, Changsha, China
- Modern Cardiovascular Disease Clinical Technology Research Center of Hunan Province, Changsha, China
- Cardiovascular Disease Research Center of Hunan Province, Changsha, China
| | - Shilan Zhang
- Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, Changsha, China
- Research Institute of Blood Lipid and Atherosclerosis, Central South University, Changsha, China
- Modern Cardiovascular Disease Clinical Technology Research Center of Hunan Province, Changsha, China
- Cardiovascular Disease Research Center of Hunan Province, Changsha, China
| | - Feng Tian
- Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, Changsha, China
- Research Institute of Blood Lipid and Atherosclerosis, Central South University, Changsha, China
- Modern Cardiovascular Disease Clinical Technology Research Center of Hunan Province, Changsha, China
- Cardiovascular Disease Research Center of Hunan Province, Changsha, China
| | - Tie Wen
- Department of Emergency Medicine, Second Xiangya Hospital, Central South University, Changsha, China
- Emergency Medicine and Difficult Diseases Institute, Second Xiangya Hospital, Central South University, Changsha, China
- Tie Wen
| | - Ling Liu
- Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, Changsha, China
- Research Institute of Blood Lipid and Atherosclerosis, Central South University, Changsha, China
- Modern Cardiovascular Disease Clinical Technology Research Center of Hunan Province, Changsha, China
- Cardiovascular Disease Research Center of Hunan Province, Changsha, China
- *Correspondence: Ling Liu
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4
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Sobral-Leite M, da Silva JL, Pimenta-Inada HK, Mendes Boisson AS, Romeiro PDA, Soares Parago FM, Valadão da Silva MVM, de Melo AC. Gastrointestinal Stromal Tumor in Monozygotic Twins Shows Distinct Mutational Status: A Case Report. AMERICAN JOURNAL OF CASE REPORTS 2021; 22:e929887. [PMID: 33674549 PMCID: PMC7949489 DOI: 10.12659/ajcr.929887] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
Abstract
Case series Patients: Female, 62-year-old • Female, 62-year-old Final Diagnosis: Gastrointestinal stromal tumor (GIST) Symptoms: Abdominal pain • fatigue Medication: — Clinical Procedure: Genetic analysis Specialty: Oncology
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Affiliation(s)
- Marcelo Sobral-Leite
- Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam, Netherlands.,Pharmacology Program, Brazilian National Cancer Institute, Rio de Janeiro, RJ, Brazil
| | - Jesse Lopes da Silva
- Division of Clinical Research and Technological Development, Brazilian National Cancer Institute, Rio de Janeiro, RJ, Brazil.,Department of Surgery, Galeão Air Force Hospital, Rio de Janeiro, RJ, Brazil
| | - Haynna Kimie Pimenta-Inada
- Division of Clinical Research and Technological Development, Brazilian National Cancer Institute, Rio de Janeiro, RJ, Brazil
| | | | | | | | | | - Andreia Cristina de Melo
- Division of Clinical Research and Technological Development, Brazilian National Cancer Institute, Rio de Janeiro, RJ, Brazil
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Rare Tumors GI Group, Farhat F, Farsi AA, Mohieldin A, Bahrani BA, Sbaity E, Jaffar H, Kattan J, Rasul K, Saad K, Assi T, Morsi WE, Abood RA. Comprehensive review into the challenges of gastrointestinal tumors in the Gulf and Levant countries. World J Clin Cases 2020; 8:487-503. [PMID: 32110658 PMCID: PMC7031830 DOI: 10.12998/wjcc.v8.i3.487] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/24/2019] [Revised: 12/13/2019] [Accepted: 01/01/2020] [Indexed: 02/05/2023] Open
Abstract
Although gastrointestinal stromal tumors (GISTs) are rare, with an incidence of 1/100000 per year, they are the most common sarcomas in the peritoneal cavity. Despite considerable progress in the diagnosis and treatment of GIST, about half of all patients are estimated to experience recurrence. With only two drugs, sunitinib and regorafenib, approved by the Food and Drug Administration, selecting treatment options after imatinib failure and coordinating multidisciplinary care remain challenging. In addition, physicians across the Middle East face some additional and unique challenges such as lack of published local data from clinical trials, national disease registries and regional scientific research, limited access to treatment, lack of standardization of care, and limited access to mutational analysis. Although global guidelines set a framework for the management of GIST, there are no standard local guidelines to guide clinical practice in a resource-limited environment. Therefore, a group of 11 experienced medical oncologists from across the Gulf and Levant region, part of the Rare Tumors Gastrointestinal Group, met over a period of one year to conduct a narrative review of the management of GIST and to describe regional challenges and gaps in patient management as an essential step to proposing local clinical practice recommendations.
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Affiliation(s)
| | - Fadi Farhat
- Hammoud Hospital UMC, Saida PO Box 652, Lebanon
| | | | - Ahmed Mohieldin
- Medical Oncology Department, Kuwait Cancer Control Center, Kuwait PO Box 42262, Kuwait
| | - Bassim Al Bahrani
- Medical Oncology Department, Royal Hospital, Muscat PO Box 1331, Oman
| | - Eman Sbaity
- Division of General Surgery, American University of Beirut, Beirut 1107 2180, Lebanon
| | - Hassan Jaffar
- Oncology Department, Tawam Hospital, Al Ain PO Box 15258, United Arab Emirates
| | - Joseph Kattan
- Hemato-oncology Department, Hotel Dieu de France, Beirut, Lebanon
| | - Kakil Rasul
- Hemato-oncology Department, National Center for Cancer Care and Research, Doha, Qatar
| | - Khairallah Saad
- Pathology Department, Institute National de Pathologic, Beirut, Lebanon
| | - Tarek Assi
- Oncology Department, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon
| | - Waleed El Morsi
- Pfizer Oncology-Emerging Markets, Dubai Media City, Dubai, United Arab Emirates
| | - Rafid A Abood
- Oncology Department, Basra College of Medicine, Basra, Iraq
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6
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Li YS, Li W, Zeng QS, Fu WH. Effect of the imatinib treatment regimen on the postoperative prognosis of patients with high-risk gastrointestinal stromal tumors. Onco Targets Ther 2019; 12:4713-4719. [PMID: 31354302 PMCID: PMC6590845 DOI: 10.2147/ott.s198129] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2018] [Accepted: 04/26/2019] [Indexed: 12/11/2022] Open
Abstract
Background: Surgical resection is the standard treatment for localized and potentially resectable gastrointestinal stromal tumors (GISTs), If the postoperative pathology diagnosis indicates that patients are at high risk of recurrence, they should be treated with imatinib. Even though the introduction of imatinib substantially improved the outcome of GIST patients, it is unclear whether different imatinib treatment regimens affect patients' survival. Methods: This retrospective study included 120 patients who underwent tumor resection for high-risk GISTs between January 2009 and October 2018. The patients were divided into three groups: one group of patients received postoperative imatinib adjuvant therapy regularly (regular treatment group); the second group was not treated with imatinib until they were found to have disease progression (observation group); the third group was treated with postoperative imatinib adjuvant therapy irregularly (irregularly treatment group). The progression-free survival (PFS) and overall survival (OS) were compared between the three groups, and the prognostic risk factors were analysed by the Cox regression model. Results: The median PFS was 45 months (range: 25-59). The 3- and 5-year PFS values were 71.3% and 49.9%, respectively. The PFS in the regular group was longer than in the observation group and irregular group (P<0.001). The median OS was 59 months (range:47-78). The 3- and 5-year OS values were 91.6% and 84.2%, respectively. There were no differences in OS among the three groups (P=0.150). The extent of radical resection (P<0.001) and intraoperative tumor rupture (P=0.005) were independent prognostic factors influencing OS. Conclusions: Irregular administration of imatinib was associated with a worse PFS, but it did not affect the OS of patients with high-risk GISTs. Avoiding intraoperative tumor rupture and R0 resection were associated with better survival.
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Affiliation(s)
- Yan-Shu Li
- Department of General Surgery, Tianjin Medical University General Hospital, Tianjin, People's Republic of China.,Department of General Surgery, Huabei Petroleum General Hospital, Renqiu, Hebei, People's Republic of China
| | - Wei Li
- Department of General Surgery, Cang Zhou Central Hospital, Cangzhou, Hebei, People's Republic of China
| | - Qing-Sheng Zeng
- Department of General Surgery, Tianjin Medical University General Hospital, Tianjin, People's Republic of China
| | - Wei-Hua Fu
- Department of General Surgery, Tianjin Medical University General Hospital, Tianjin, People's Republic of China
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7
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Liu F, Zou F, Chen C, Yu K, Liu X, Qi S, Wu J, Hu C, Hu Z, Liu J, Liu X, Wang L, Ge J, Wang W, Ren T, Bai M, Cai Y, Xiao X, Qian F, Tang J, Liu Q, Liu J. Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors. Ther Adv Med Oncol 2019; 11:1758835919849757. [PMID: 31205508 PMCID: PMC6535728 DOI: 10.1177/1758835919849757] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/06/2018] [Accepted: 04/04/2019] [Indexed: 11/16/2022] Open
Abstract
Background cKIT kinase overexpression and gain-of-function mutations are the critical pathogenesis of gastrointestinal stromal tumors (GISTs). Although the multiple kinase inhibitors such as imatinib, sunitinib, and regorafenib have been approved for GISTs, the acquisition of polyclonal secondary resistance mutations in KIT is still a limitation for GIST treatment. Here we explored the KIT inhibitory activity of axitinib in preclinical models and describe initial characterization of its activity in GIST patient-derived primary cells. Methods The activities of axitinib against mutant KIT were evaluated using protein-based assay and a panel of engineered and GIST-derived cell lines. The binding modes of axitinib-KIT/KIT mutants were analyzed. Four primary cells derived from GIST patients were also used to assess the drug response of axitinib. Results Axitinib exhibited potent activities against a variety of cKIT associated primary and secondary mutations. It displayed better activity against cKIT wild-type, cKIT V559D/A/G, and L576P primary gain-of-function mutations than imatinib, sunitinib, and regorafenib. In addition, it could inhibit imatinib resistant cKIT T670I and V654A mutants in vitro and in vivo GIST preclinical models. Conclusion Our results provide the basis for extending the application of axitinib to GISTs patients who are unresponsive or intolerant to the current therapies.
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Affiliation(s)
- Feiyang Liu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui, P. R. China
| | - Fengming Zou
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui, P. R. China
| | - Cheng Chen
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Kailin Yu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Xiaochuan Liu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China
| | - Shuang Qi
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui, P. R. China
| | - Jiaxin Wu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Chen Hu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Zhenquan Hu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui, P. R. China
| | - Juan Liu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Xuesong Liu
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Li Wang
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Juan Ge
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China University of Science and Technology of China, Hefei, Anhui, P. R. China
| | - Wenchao Wang
- High Magnetic Field Laboratory, Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui, P. R. China
| | - Tao Ren
- Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui, P. R. China Precision Targeted Therapy Discovery Center, Institute of Technology Innovation, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui, P. R. China
| | - Mingfeng Bai
- Molecular Imaging Laboratory, Department of Radiology, University of Pittsburgh Cancer Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
| | - Yujiao Cai
- Department of General Surgery, Second Hospital Affiliated to Army Medical University, Chongqing, P. R. China
| | - Xudong Xiao
- Department of Anesthesiology, Second Hospital Affiliated to Army Medical University, Chongqing, P. R. China
| | - Feng Qian
- Department of General Surgery, Southwest Hospital Affiliated to Army Medical University, Chongqing, P. R. China
| | - Jun Tang
- Department of Gastroenterology, The People's Liberation Army Joint Logistics Support Force No. 901 Hospital, Hefei, Anhui 230031, P. R. China
| | - Qingsong Liu
- High Magnetic Field Laboratory, Chinese Academy of Sciences, 350 Shushanhu Road, Hefei, Anhui 230031, P. R. China Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui 230088, P. R. China University of Science and Technology of China, Hefei, Anhui 230036, P. R. China Precision Targeted Therapy Discovery Center, Institute of Technology Innovation, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, Anhui 230088, P. R. China Institute of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, P. R. China
| | - Jing Liu
- High Magnetic Field Laboratory, Chinese Academy of Sciences, 350 Shushanhu Road, Hefei, Anhui 230031, P. R. China Precision Medicine Research Laboratory of Anhui Province, Hefei, Anhui 230088, P. R. China
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8
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Ginevra D, Gloria A, Diletta C, Nicola M, Monica ML, Gianluca F, Antonella M, Silvia P, Andrea G, Vittorio M. Relationship between diagnostic imaging features and prognostic outcomes in gastrointestinal stromal tumors (GIST). ACTA BIO-MEDICA : ATENEI PARMENSIS 2019; 90. [PMID: 31085970 PMCID: PMC6625570 DOI: 10.23750/abm.v90i5-s.8343] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
Abstract
Gastrointestinal stromal tumors (GISTs), the most frequent mesenchymal neoplasms of the gastrointestinal tract, are a relatively recently described entity. GISTs can occur across any age but are more common in patients older than 50 years. GISTs most commonly are in the stomach (60-70%), followed by the small intestine (20%-30%); they also rarely occur in the abdominal cavity, such as in the mesentery, the omentum and the retroperitoneum. Contrast-enhanced multi-detector computed tomography (MDCT) is the most largely used imaging modality for the localization, characterization and staging of GISTs. All patterns of enhancement on contrast-enhanced MDCT can be seen with GISTs, including hypoenhancing, isoenhancing, and hyperenhancing neoplasms. A lot of prognostication systems have been proposed for the risk stratification of GISTs. This review outlines the relationship between different diagnostic imaging features and prognostic outcomes in GISTs.
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Affiliation(s)
- Danti Ginevra
- Department of Radiology, Careggi University Hospital, Florence, Italy
| | - Addeo Gloria
- Department of Radiology, Careggi University Hospital, Florence, Italy
| | - Cozzi Diletta
- Department of Radiology, Careggi University Hospital, Florence, Italy
| | - Maggialetti Nicola
- Department of Medicine and Health Sciences “V. Tiberio”, University of Molise, Campobasso, Italy
| | | | | | | | - Pradella Silvia
- Department of Radiology, Careggi University Hospital, Florence, Italy,Correspondence: Silvia Pradella, MD Department of Radiology - Careggi University Hospital L.go G.A. Brambilla, 3 - 50134 Florence, Italy E-mail:
| | - Giovagnoni Andrea
- Department of Radiology, Università Politecnica delle Marche, Ancona, Italy
| | - Miele Vittorio
- Department of Radiology, Careggi University Hospital, Florence, Italy
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9
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Salame H, Issa M, Nicolas G, Haddad J, Haddad MM, Farhat FS, Moubarak H, Kfoury T, Zaghrini E, Wakim R. A Rare Case of a Ruptured Metastatic Hepatic Lesion from a Jejunal Gastrointestinal Stromal Tumor (GIST) Treated by Arterial Embolization. AMERICAN JOURNAL OF CASE REPORTS 2018; 19:1480-1487. [PMID: 30542049 PMCID: PMC6302770 DOI: 10.12659/ajcr.910061] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]
Abstract
Patient: Male, 68 Final Diagnosis: Ruptured metastatic hepatic lesion from a jejunal GIST Symptoms: Abdominal discomfort • hypotension Medication: — Clinical Procedure: — Specialty: Gastroenterology and Hepatology
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Affiliation(s)
- Hassan Salame
- Department of General Surgery, Al Zahraa Hospital, Beirut, Lebanon
| | - Mahdi Issa
- Department of General Surgery, Mount Lebanon Hospital, Beirut, Lebanon
| | - Gregory Nicolas
- Department of General Surgery, Lebanese American University Medical Center - Rizk Hospital (LAUMCRH), Beirut, Lebanon
| | - Juliano Haddad
- Mount Lebanon Hospital, Lebanese University, Beirut, Lebanon
| | - Marwan M Haddad
- Department of Interventional Radiology, Mount Lebanon Hospital, Beirut, Lebanon
| | - Firas S Farhat
- Department of Radiology, Mount Lebanon Hospital, Beirut, Lebanon
| | - Hussein Moubarak
- Department of General Surgery, Mount Lebanon Hospital, Beirut, Lebanon
| | - Tony Kfoury
- Department of General Surgery, Mount Lebanon Hospital, Beirut, Lebanon
| | - Elie Zaghrini
- Department of Emergency Medicine, Lebanese American University Medical Center - Rizk Hospital (LAUMCRH), Beirut, Lebanon
| | - Raja Wakim
- Department of General Surgery, Mount Lebanon Hospital, Beirut, Lebanon
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10
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Mavroeidis L, Metaxa-Mariatou V, Papoudou-Bai A, Lampraki AM, Kostadima L, Tsinokou I, Zarkavelis G, Papadaki A, Petrakis D, Gκoura S, Kampletsas E, Nasioulas G, Batistatou A, Pentheroudakis G. Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/ PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece. ESMO Open 2018; 3:e000335. [PMID: 29636989 PMCID: PMC5890860 DOI: 10.1136/esmoopen-2018-000335] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/03/2018] [Revised: 03/06/2018] [Accepted: 03/07/2018] [Indexed: 12/17/2022] Open
Abstract
Introduction Gastrointestinal stromal tumours (GIST) are mesenchymal neoplasms that usually carry an activating mutation in KIT or platelet-derived growth factor receptor alpha (PDGFRA) genes with predictive and prognostic significance. We investigated the extended mutational status of GIST in a patient population of north-western Greece in order to look at geopraphic/genotypic distinctive traits. Patient and methods Clinicopathological and molecular data of 38 patients diagnosed from 1996 to 2016 with GIST in the region of Epirus in Greece were retrospectively assessed. Formalin-fixed paraffin-embedded tumours were successfully analysed for mutations in 54 genes with oncogenic potential. Next generation sequencing was conducted by using the Ion AmpliSeqCancer Hotspot Panel V.2 for DNA analysis (Thermofisher Scientific). Results Among 38 tumours, 24 (63.16%) and seven (18.42%) of the tumours harboured mutations in the KIT and PDGFRA genes, respectively, while seven (18.42%) tumours were negative for either KIT or PDGFRA mutation. No mutations were detected in five (13.16%) cases. Concomitant mutations of BRAF and fibroblast growth factor receptor 3 (FGFR3) genes were observed in two patients with KIT gene mutation. Two patients with KIT/PDGFRA wild-type GIST had mutations in either KRAS or phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) genes. There was no significant survival difference regarding the exonic site of mutation in either KIT or PDGFRA gene. The presence of a mutation in pathway effectors downstream of KIT or PDGFRA, such as BRAF, KRAS or PIK3CA, was associated with poor prognosis. Adverse prognosticators were also high mitotic index and the advanced disease status at diagnosis. Conclusions We report comparable incidence of KIT and PDGFRA mutation in patients with GIST from north-western Greece as compared with cohorts from other regions. Interestingly, we identified rare mutations on RAS, BRAF and PIK3CA genes in patients with poor prognosis.
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Affiliation(s)
- Leonidas Mavroeidis
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | | | | | | | - Lida Kostadima
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | - Ilias Tsinokou
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | - George Zarkavelis
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | - Alexandra Papadaki
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | - Dimitrios Petrakis
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | - Stefania Gκoura
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | - Eleftherios Kampletsas
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
| | | | - Anna Batistatou
- Department of Pathology, School of Medicine, Ioannina, Greece
| | - George Pentheroudakis
- Department of Medical Oncology, School of Medicine, Ioannina, Greece.,Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece
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