Engin G, Eraslan S, Kayserili H, Kapran Y, Akman H, Akyuz A, Aykan NF. Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report. World J Radiol 2017; 9(9): 365-370 [PMID: 29098070 DOI: 10.4329/wjr.v9.i9.365]
Corresponding Author of This Article
Gulgun Engin, MD, Oncology Institute, Istanbul University, Millet Street, 34390 Capa, Istanbul, Turkey. gengin@istanbul.edu.tr
Research Domain of This Article
Oncology
Article-Type of This Article
Case Report
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Engin G, Eraslan S, Kayserili H, Kapran Y, Akman H, Akyuz A, Aykan NF. Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report. World J Radiol 2017; 9(9): 365-370 [PMID: 29098070 DOI: 10.4329/wjr.v9.i9.365]
Author contributions: Engin G analysed data, designed and wrote the paper; Eraslan S performed molecular analysis and made the last revision of the report; Kayserili H performed genetic work-up and made the last revision of the report; Kapran Y performed the pathologic analyses; Akman H performed the computed tomography; Akyuz A performed surgical operations and Aykan NF collected the clinical data of patients, performed medical treatments and made the last revision of the report.
Institutional review board statement: This case report was approved by the Institutional Review Board of Istanbul University Oncology Institute in Istanbul.
Informed consent statement: The patients involved in this study gave their written informed consent authorizing use and disclosure of them protected health information.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
Correspondence to: Gulgun Engin, MD, Oncology Institute, Istanbul University, Millet Street, 34390 Capa, Istanbul, Turkey. gengin@istanbul.edu.tr
Telephone: +90-212-4142000 Fax: +90-212-5348078
Received: January 27, 2017 Peer-review started: February 9, 2017 First decision: June 12, 2017 Revised: July 24, 2017 Accepted: August 2, 2017 Article in press: August 2, 2017 Published online: September 28, 2017 Processing time: 258 Days and 22.1 Hours
Abstract
Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.
Core tip: Familial gastrointestinal stromal tumor (GIST) with exon 13 germline mutations are extremely rare. Moreover, there are only a few reports describing the response to imatinib in familial GISTs. The data on the role of imatinib in familial GISTs is still limited. Understanding the role of imatinib is important for the appropriate management of mutation positive familial GISTs. It is also crucial to be able to determine the role of specific germline KIT mutations in. We hereby report our findings in consideration of up-to-date information.
