Open AccessFamilial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report
Author(s) -
Yuan Wang,
Hao Wen,
Ren Lang,
Xu Chen,
Li-Juan Luan,
Jie Huang,
Anwei Xue,
Yong Fang,
XiaoDong Gao,
Kuntang Shen,
Jinghuan Lv,
Yingyong Hou
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i15.4878
Subject(s) - medicine , germline mutation , pdgfra , germline , neurofibromin 1 , stromal tumor , pathology , family history , neurofibromatosis , cd117 , proband , mutation , gist , genetics , stromal cell , biology , stem cell , gene , cd34
Familial gastrointestinal stromal tumors (GISTs) is a rare autosomal dominant disorder characterized by an array of clinical manifestations. Only 35 kindreds with germline KIT mutations and six with germline PDGFRA mutations have been reported so far. It is often characterized by a series of manifestations, such as multiple lesions and hyperpigmentation. However, the effect of imatinib treatment in these patients is still uncertain.