TGF-β/SMAD4信号通路中基因突变对胰腺癌患者生存的影响  

The effect of mutations in TGF-β/SMAD4 signal pathway on the survival of patients with pancreatic cancer

作　　者：方闯 田伟军[1] FANG Chuang;TIAN Wei-jun(Department of General Surgery,General Hospital,Tianjin Medical University,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院普通外科,天津300052

出　　处：《天津医科大学学报》2020年第5期450-453,共4页Journal of Tianjin Medical University

摘　　要：目的:分析胰腺导管腺癌患者转化生长因子(TGF)-β/SMAD4信号通路中基因突变的情况及对生存的影响。方法:回顾性分析天津医科大学总医院普通外科2016年7月—2019年9月共19例胰腺导管腺癌患者的临床资料,NGS检测患者基因突变情况,查询dbSNP及COSMIC数据库关键基因突变位点的临床意义。结果:19例胰腺导管腺癌患者中最常见的基因突变是KRAS(84.2%)、TP53(68.4%)、SMAD4(26.3%)、CDKN2A(26.3%)、CREBBP(15.8%)、RNF43(15.8%)、BRAF(15.8%)等。具有TGF-β/SMAD4信号通路相关基因突变的患者有7例(36.8%),其中SMAD4基因突变组中位生存时间5.0个月,无SMAD4基因突变组中位生存时间14.0个月,差异有统计学意义(P=0.032)。结论:TGF-β/SMAD4信号通路中具有SMAD4基因突变患者的临床预后相较于无基因突变患者的临床预后更差,此通路中具有多个基因突变其预后相对更差。Objective:To analyze the status of gene mutations in transforming growth factor(TGF)-β/SMAD4 signal pathway in patients with pancreatic cancer and its effect on survival.Methods:The clinical data of 19 patients with pancreatic cancer from July 2016 to September 2019 in the General Hospital of Tianjin Medical University were analyzed retrospectively,the gene mutations were detected by NGS and the clinical significance of querying the key gene mutation sites in dbSNP and COSMIC databases were investigated.Results:The most common gene mutations in 19 patients with pancreatic cancer were KRAS(84.2%),TP53(68.4%),SMAD4(26.3%),CDKN2A(26.3%),CREBBP(15.8%),RNF43(15.8%),BRAF(15.8%),etc.There were 7(36.8%)patients with the TGF-β/SMAD4 signal pathway-related gene mutations.The median survival time of the SMAD4 gene mutation group is 5.0 months,and the median survival time in the non-SMAD4 gene mutation group is 14.0 months,and the difference was statistically significant(P=0.032).Conclusion:The clinical prognosis of patients with the SMAD4 gene mutation in TGF-β/SMAD4 signaling pathway is worse than that of patients without gene mutations,and the prognosis of patients with multiple gene mutations in this pathway is relatively worse.

关 键 词：胰腺癌 基因突变 生存分析 TGF-β/SMAD4信号通路 

分 类 号：R735.9[医药卫生—肿瘤]