胃肠间质瘤(gastrointestinal stromal tumors,GIST)是消化道最常见的间叶性肿瘤。c-kit 基因的过表达被视为是诊断 GIST 非常重要的指标之一。c-kit 基因过表达是由于 c-kit基因发生获得性功能突变,属于激活型或致瘤性突变,引起c-kit 基因蛋白自动磷酸化,进而激活下游信号转导蛋白发生磷酸化,对细胞增殖、凋亡和黏附发挥调节作用。由于 c-kit基因表达存在非 GIST 现象,表达水平与基因突变也存在不一敛性,c-kit 基因突变异常在 GIST 病理诊断和靶向药物治 Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumor in the digestive tract. Overexpression of the c-kit gene is considered as one of the most important indicators for the diagnosis of GIST. Overexpression of c-kit gene is an acquired functional mutation in c-kit gene. It belongs to an activating or tumorigenic mutation, which causes autophosphorylation of c-kit gene protein, which in turn activates downstream signaling protein phosphorylation. Proliferation, apoptosis and adhesion play a regulatory role. Because there is non-GIST phenomenon in c-kit gene expression, there is a non-convergence of expression level and gene mutation. The mutation of c-kit gene in GIST pathological diagnosis and targeted drug therapy