Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Sep 15, 2024; 16(9): 4028-4036
Published online Sep 15, 2024. doi: 10.4251/wjgo.v16.i9.4028
Two different mutational types of familial gastrointestinal stromal tumors: Two case reports
Xiao-Ke Wang, Lu-Fan Shen, Xin Yang, He Su, Tao Wu, Peng-Xian Tao, Hong-Ying Lv, Tong-Han Yao, Lin Yi, Yuan-Hui Gu
Xiao-Ke Wang, Xin Yang, Tong-Han Yao, The First School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou 730000, Gansu Province, China
Lu-Fan Shen, Hong-Ying Lv, Lin Yi, School of Traditional Chinese and Western Medicine, Gansu University of Chinese Medicine, Lanzhou 730000, Gansu Province, China
He Su, Tao Wu, Peng-Xian Tao, Yuan-Hui Gu, Department of General Surgery, Gansu Provincial Hospital, Lanzhou 730000, Gansu Province, China
Co-corresponding authors: Lin Yi and Yuan-Hui Gu.
Author contributions: Wang XK contributed to original draft preparation; Tao PX also contributed to manuscript writing while overseeing the project; Shen LF and Yang X contributed to image collection drawing; Yao TH and Lv HY participated in literature collection; Gu YH, Yi L, Su H and Wu T revised the manuscript; and all authors wrote, read, and approved the final manuscript. The reasons for designating Gu YH and Yi L as co-corresponding authors are twofold. Gu YH and Yi L were the corresponding authors of this manuscript because they discussed and selected topics together and developed the framework of the entire manuscript; after the first draft was completed, they revised and improved the manuscript together and jointly guided the completion of this manuscript.
Supported by National Natural Science Foundation of China, No. 82160842; Clinical Research Project of Research Fund of Gansu Provincial Hospital, No. 23GSSYD-17; and General Program of the Joint Scientific Research Fund, No. 23JRRA1521.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
CARE Checklist (2016) statement: The authors have read CARE Checklist (2016), and the manuscript was prepared and revised according to CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: https://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Yuan-Hui Gu, MD, Chief Doctor, Surgeon, Surgical Oncologist, Department of General Surgery, Gansu Provincial Hospital, No. 204 Donggang West Road, Lanzhou 730000, Gansu Province, China. guyuanh@163.com
Received: May 31, 2024
Revised: July 3, 2024
Accepted: July 19, 2024
Published online: September 15, 2024
Processing time: 100 Days and 22.7 Hours
Abstract
BACKGROUND

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal (GI) tract, and cases of GISTs tend to be of the disseminated type, with a global incidence of 10 to 15 cases/million each year. The rarer familial GISTs, which often represent a population, differ in screening, diagnosis, and treatment. Familial GISTs include primary familial GISTs with predominantly KIT/PDGFRA mutations and wild-type GISTs. However, whether the same genetic family has different phenotypes has not been reported.

CASE SUMMARY

We report two cases of rare GISTs in the same family: A male patient with the V561D mutation in exon 12 of the PDGFRA gene, who has been taking the targeted drug imatinib since undergoing surgery, and a female patient diagnosed with wild-type GIST, who has been taking imatinib for 3 years since undergoing surgery. The favorable prognosis of these patients during the 7-year follow-up period validates the accuracy of our treatment strategy, and we have refined the entire process of diagnosis and treatment of familial GISTs in order to better manage this rare familial disease.

CONCLUSION

Different mutation types of familial GISTs in the same family are very rare, thus it is very important to make the correct diagnosis and treatment strategies according to the results of molecular detection for the management of familial GISTs.

Keywords: Gastrointestinal stromal tumor; Familial gastrointestinal stromal tumor; Wild-type gastrointestinal stromal tumors; PDGFRA; Imatinib; Treatment; Case report

Core Tip: Familial gastrointestinal stromal tumors (GISTs) include primary familial GISTs with predominantly KIT/PDGFRA mutations and wild-type GISTs; however, there are no reports on whether there are different types of GISTs in the same genetic family. We report two cases of GISTs in the same family with different types of mutations. During our long-term follow-up, the favorable prognosis of these patients verified the accuracy of our treatment strategy. We also improved the whole process of diagnosis and treatment of familial GISTs in order to better manage this rare familial disease.