基于二代测序的子宫内膜癌患者基因突变分析

Gene mutation analysis of endometrial cancer patients based on second-generation sequencing

目的探讨淮安地区子宫内膜癌人群的基因遗传信息。方法于淮安市妇幼保健院行手术治疗的子宫内膜癌患者15例入组,抽取患者静脉血5 ml,通过二代基因测序技术,共检测110个基因位点,分析该组患者基因突变信息。结果15例患者中共检测出75个基因突变,结合TGCA数据库分析,发现21个有义突变,其中ATM、MSH2、PIK3R1、PTEN、TET2和TSC1为抑癌基因,ALK、CTNNB1、ERBB2、FGFR2、HNF1A、KIT、MTOR、PDGFRA、PPP2R1A和SF3B1为癌基因。PTEN基因的突变率最高(46.67%),PIK3R1、AKT2和FOXO1基因的突变率位于PTEN基因之后,且与子宫内膜癌的发生发展相关。结论通过二代基因测序技术可以明确子宫内膜癌的遗传突变情况,进一步明确其可能存在的分子机制,为临床开发新的治疗靶点提供理论依据。

Objective To investigate the genetic information of endometrial cancer population in Huai'an area.Methods A total of 15 patients with endometrial cancer who underwent surgery in Huai'an Maternal and Child Health Hospital were enrolled and 5 ml of venous blood was collected from the patients.Then,110 gene loci were detected by second-generation gene sequencing,and the gene mutation information of the patients was analyzed.Results There were 75 gene mutations in these patients.According to TGCA database analysis,21 sense mutations were found,whereATM,MSH2,PIK3R1,PTEN,TET2 and TSC1were tumor suppressor genes andALK,CTNNB1,ERBB2,FGFR2,HNF1A,KIT,MTOR,PDGFRA,PPP2R1A and SF3B1were oncogenes.The mutation rate of PTEN was the highest(46.67%),followed byPIK3R1,AKT2 and FOXO1,which were related to the pathogenesis of endometrial cancer.Conclusions Second-generation gene sequencing can determine the genetic mutation of endometrial cancer andexplore the possible molecular mechanism,which provide theoretical evidence for clinical development of new therapeutic targets.