胃肠道间质瘤c-kit基因突变的研究进展

目的探讨胃肠道间质瘤（gastrointestinal stromal tumor,GIST）c-kit基因突变特征与临床病理、分子靶向治疗及预后的相关性。方法采用文献复习的方法,对研究胃肠道间质瘤分子遗传学机理的相关文献加以综述。结果 c-kit基因突变可能是GIST发生的早期事件,是GIST的普遍现象,不能作为GIST预后判断的指标。然而,c-kit突变位点和方式是否影响GIST的生物学行为,能否作为评估预后的指标仍存在争议。结论基因突变检测对从分子水平上研究疾病、判断预后以及指导用药具有重要意义,需要不断地深入研究。

Research Progress of c-kit Gene Mutations in Gastrointestinal Stromal Tumor

Objective To investigate the feature of c-kit gene mutation in gastrointestinal stromal tumor（GIST） and its correlation with clinicolpathology,molecular targeted therapy,and prognosis.Methods The related literatures about the molecular genetic mechanism of GIST were reviewed.Results The c-kit gene mutation,which is prevalent in GIST,may be the early genomic events,and they are not the independent prognostic factor.However,different molecular subtype as a new indicator to regulate biological behaviors and assess prognosis of GIST is still controversial.Conclusions The study of genotype in GIST has advanced our understanding of pathogenesis,evaluating the prognosis and conducting treatment optimization.However,subsequent work remains to be done.