Yuan W, Huang W, Ren L, Xu C, Luan LJ, Huang J, Xue AW, Fang Y, Gao XD, Shen KT, Lv JH, Hou YY. Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report. World J Clin Cases 2022; 10(15): 4878-4885 [PMID: 35801023 DOI: 10.12998/wjcc.v10.i15.4878]
Corresponding Author of This Article
Ying-Yong Hou, PhD, Department of Pathology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Xuhui District, Shanghai 200032, China. 980455691@qq.com
Research Domain of This Article
Pathology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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: http://creativecommons.org/licenses/by-nc/4.0/
Wei Yuan, Wen Huang, Lei Ren, Chen Xu, Li-Juan Luan, Jie Huang, Ying-Yong Hou, Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
An-Wei Xue, Yong Fang, Xiao-Dong Gao, Kun-Tang Shen, Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Jing-Huan Lv, Department of Pathology, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou 215002, Jiangsu Province, China
Author contributions: Yuan W participated in the design of this study; Huang W drafted this manuscript; Ren L and Xu C performed literature research and data acquisition; Luan LJ and Huang J provided help for the methodology used; Xue AW, Fang Y and Gao XD analyzed the CT findings; Lv JH collected the background information and contributed to manuscript drafting; Hou YY contributed to funding acquisition; Shen KT and Hou YY reviewed and edited this manuscript; all authors issued final approval for the version to be submitted.
Supported byShanghai Municipal Key 306 Clinical Specialty, No. shslczdzk01302.
Informed consent statement: Informed consent was obtained from this patient prior to inclusion in the study.
Conflict-of-interest statement: The authors declare that they have no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the 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/
Received: May 11, 2021 Peer-review started: May 11, 2021 First decision: October 16, 2021 Revised: October 29, 2021 Accepted: March 25, 2022 Article in press: March 25, 2022 Published online: May 26, 2022
Core Tip
Core tip: Familial gastrointestinal stromal tumors (GISTs) with a germline KIT oncogene mutation are always accompanied by symptoms, such as cutaneous hyperpigmentation, dysphagia and mastocytosis. We present a novel KIT germline mutation (p.V560G) in a 25-year-old Chinese woman with familial GISTs. The same mutation was detected in the tumor and saliva samples of her father. They both had similar cutaneous hyperpigmentation on their face, body and limbs. Imatinib therapy resulted in a long-term response and generalized hypopigmentation. This case highlights that clinical manifestations, family history, pathological examination and molecular determination should be combined for correct diagnosis. This novel KIT germline mutation may be of therapeutic significance.
