基因突变检测在胃肠间质瘤诊断和治疗中的应用及其价值

Application and value of mutation detection in diagnosis and treatment of gastrointestinal stromal tumor

c-kit和PDGFRA基因突变是胃肠间质瘤（GIST）最重要的分子特征。对这两个基因突变的检测对于诊断KIT阴性GIST具有重要意义，同时还可以用于预测酪氨酸激酶受体抑制剂的治疗效果。此外，近年来更多的研究关注于把基因突变状态作为判断GIST预后因子的可行性。

Mutation of c-kit and platelet-derived growth factor receptor alpha （PDGFRA） is the most important molecular feature of gastrointestinal stromal tumor （GIST）. Mutation detection of these two genes is of great significance when establishing the diagnosis of a kit-negative GIST, or when predicting response to tyrosine kinase inhibitor. Furthermore, more and more researches focus on the feasibility of the mutation status using as a prognostic factor in recent years.