C—kit与血小板源性生长因子受体基因突变特征与胃肠间质瘤患者预后的关系

目的探讨C-kit与血小板源性生长因子受体（PDGFRA）基因突变特征及其与胃肠间质瘤（GIST）患者预后的关系。方法收集2000年6月至2009年1月山西省肿瘤医院收治的99例GIST患者的I临床病理、基因检测及随访资料。应用Kaplan．Meier法计算生存率并进行单因素分析,cox比例风险模型进行多因素分析。结果99例患者的5年无瘤生存率（DFS）为61．5％;5年总体生存率（OS）为67．4％。其中,77例c-kit外显子11、4例c．kit外显子9和2例PDGFRA外显子18突变患者5年DFS分别为64．3％、14．3％和100％。5年OS分别为70．8％、50．0％和100％。在c-kit外显子11突变的类型中。26例点突变、44例删失突变和7例复制突变患者5年DFS分别为87．1％、44．9％和80．0％,5年OS分别为88．1％、57．0％和100％。各因素之间5年DFS和OS差异均有统计学意义（P〈0．05）。多因素分析示,基因突变并不是预后的独立影响因素（P=0．492）。结论经手术治疗而未服用伊马替尼的GIST患者．基因突变型预后优于野生型。但基因突变并非其预后的独立影响因素。

Relationship of c-kit and platelet-derived growth factor receptor alpha gene mutation features with prognosis of patients with gastrointestinal stromal tumor

Objective To explore the relationship between c-kit and platelet-derived growth factor receptor alpha （PDGFRA） gene mutation features and the prognosis of gastrointestinal stromal tumor （GIST）. Methods Clinicopathological, genetic testing and follow-up informations of patients admitted to the Shanxi Tumor Hospital from June 2000 to January 2009 were collected. The survival was calculated and univariate analysis was conducted using the Kaplan-Meier method. Multivariate analysis was conducted by the Cox regression method. Resdts The 5-year disease-free survival rate was 61.5% and the 5-year overall survival rate was 67.4%. The 5-year disease-free survival rates of patients without disease among those with c-kit exon 11 mutation（n=77）, c-kit exon 9 mutation（n=4）, and PDGFRA exon 18 mutation（n=2） were 63.4%, 14.3% and 100%, and the 5-year overall survival rates were 70.8%, 50.0% and 100%, respectively. In the patients with c-kit exon 11 mutation, the 5-year disease-free survival rates among those with point mutations （n=26）, deletion mutations （n=44）, and duplication mutations（n=7） were 87.1%, 44.9% and 80.0%, and the 5-year overall survival rates were 88.1%, 57.0% and 100%, respectively. There were significant differences in overall survival among different factors. Multivariate analysis showed that gene mutation was not the independent factor of prognosis （P=0.492）. Conclusions In GIST patients undergoing surgery without imatinib treatment, mutated genotype is better than wild type in terms of prognosis. Gene mutation is not the independent factor of prognosis in GIST patients.