Characteristics and therapeutic strategies for familial gastrointestinal stromal tumors  

作　　者：Yuan Liu Xiao-Feng Li 

机构地区：[1]Department of Gastroenterology,The Fifth Affiliated Hospital of Sun Yat-sen University,Zhuhai 519000,Guangdong Province,China

出　　处：《World Journal of Gastrointestinal Oncology》2025年第3期13-18,共6页世界胃肠肿瘤学杂志(英文)

基　　金：National Natural Science Foundation of China,No.82370569;Basic and Applied Basic Research Foundation of Guangdong Province,No.2022A1515012647;the Key Program for Science and Technology Projects of Social Development in Zhuhai,No.2220004000249(to Li XF).

摘　　要：This editorial discusses Wang et al's article on familial gastrointestinal stromal tumors(GISTs).We read with great interest this article concerning the diagnosis,treatment,and post-treatment management of patients with familial GISTs.The actual incidence of GISTs may be underestimated due to diagnostic limitations and the long-term low-risk behavior of some GISTs.The molecular landscape of GISTs is primarily driven by mutations in the KIT and platelet-derived growth factor receptor alpha(PDGFRA)genes.A subset of GISTs without these mutations known as wild-type GISTs,may harbor other rare mutations,impacting their response to targeted therapies.Clinically,patients with GISTs present with nonspecific symptoms,often leading to delayed diagnosis.Genetic predispositions in familial GISTs provide insights into the genetic architecture and extragastrointestinal manifestations of GISTs.Management has evolved from surgical interventions to molecular-based therapies using tyrosine kinase inhibitors.The management of GISTs,especially in familial cases,requires a multidisciplinary approach.Cases of different gene mutations were reported in the same family,suggesting that incorporating genetic testing into routine clinical practice is crucial for the early identification of high-risk individuals and the implementation of tailored surveillance programs.

关 键 词：Gastrointestinal stromal tumors KIT mutation Platelet-derived growth factor receptor alpha mutation Wild-type gastrointestinal stromal tumor Tyrosine kinase inhibitors Familial gastrointestinal stromal tumor syndromes Molecular characteristics Targeted therapy 

分 类 号：R73[医药卫生—肿瘤]