胃肠道间质瘤的基因突变特征与预后的关系

胃肠道间质瘤（gastrointestinal stromal tumors，GIST）中发现有c-kit基因突变和蛋白质产物的表达，是GIST研究过程中的重要里程碑。除c-kit基因外，部分GIST中还存在PDGFRA基因突变，对GIST的病因和发病机制作了重要的补充。其中，在存在c-kit基因突变的GIST患者中，检测到突变几乎主要集中在第11、9、13、17号外显子；存在有PDGFRA基因突变的GIST患者中，突变主要集中在第18、12号外显子。研究表明，GIST的基因突变特征与预后有显著的相关性。从基因水平上研究疾病、判断预后、指导用药且右甭尊的临床意义。

The relationship between the gene mutation feature and prognosis in gastrointestinal stromal tumor

The discovery that gastrointestinal stromal tumor （GIST） has a c-kit gene mutation and the c-kit protein expression is a mile stone in GIST study. Besides c-kit gene, PDGFRA gene mutation in some of the GIST patient has been detected, which is an important supplementary to the pathogenesis of GIST. In patients with c-kit gene mutation, mutation detected are most prevalent in the exon 11, 9, 13 and 17, while in patients with PDGFRA gene mutation, mutation mainly locates in exon 18 and 12. Many studies suggest that there exists a significant correlation between gene mutation feature and the prognosis of GIST patients. Researches on the disease, judgment of the prognosis and choice of treatment on the gene level have important clinical relevance.