Article
Chinese Pedigree with Hereditary Gastrointestinal Stromal Tumors: A Case Report and Literature Review.
International journal of molecular sciences - 3 Jan 2023
Ge Qichao, Liu Yang, Yang Fan, Sun Guangwei, Guo Jintao, Sun Siyu
Abstract excerpt
Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder with only a few affected families reported to date. Here, we report a case of familial GISTs harboring a novel germline mutation within exon 18 of KIT. A 58-year-old male patient presented with gastric subepithelial lesions accompanied by cutaneous hyperpigmentation, which were subsequently diagnosed as multinodular...
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