Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Radiol. Sep 28, 2017; 9(9): 365-370
Published online Sep 28, 2017. doi: 10.4329/wjr.v9.i9.365
Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report
Gulgun Engin, Serpil Eraslan, Hülya Kayserili, Yersu Kapran, Haluk Akman, Ali Akyuz, Nuri Faruk Aykan
Gulgun Engin, Oncology Institute, Istanbul University, 34390 Capa, Istanbul, Turkey
Serpil Eraslan, Hülya Kayserili, Medical Genetics Department, Koç University, School of Medicine (KUSoM), 34010 Topkapı, Istanbul, Turkey
Yersu Kapran, Pathology Department, Koç University, School of Medicine (KUSoM), 34010 Topkapı, Istanbul, Turkey
Haluk Akman, International Hospital, Yesilkoy, 34662 Bakirkoy, Istanbul, Turkey
Ali Akyuz, Acıbadem University, Acıbadem International Hospital, 34149 Bakirkoy, Istanbul, Turkey
Nuri Faruk Aykan, Istinye University, Liv Hospital, 34510 Esenyurt, Istanbul, Turkey
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.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Gulgun Engin, MD, Oncology Institute, Istanbul University, Millet Street, 34390 Capa, Istanbul, Turkey.
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
Core Tip

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.