广西医科大学学报2017，Vol.34Issue(6)：828-831,4.DOI:10.16190/j.cnki.45-1211/r.2017.06.008
二代测序法检测结肠癌基因突变与临床病理特征的关系
Relationship between gene mutation profile by second generation sequencing and clinicopathological characteristics of colorectal cancer patients
摘要
Abstract
Objective:The study aimed to investigate the relationship between gene mutation and the clinical pathological features in colorectal cancer patients.Methods:The clinicopathological data of 80 patients with colorectal cancer in south area of Jiangsu Province (January 2012 to December 2016) and the second generation sequencing data generated from their tumor tissues and circulating tumor DNA(ctDNA) were retrospective analyzed.The relationship of clinical and pathological features like colon cancer gene mutation,pathogenesis,clinical stage and recurrence and metastasis were analyzed.Results:The mutation rate of MLH1,TOP1 and PTEN were higher in the right colon than those of the left colon (all P＜0.05).Compared with stage Ⅰ-Ⅱ,the mutation rate of KRAS was much higher in stages Ⅲ-ⅣV (P＜0.05).ERCC2 and MLH1 mutations were more likely to develop vascularized thrombus (P＜0.05).In contrast,the mutation of XRCC1 gene was related to the reduced incidence of vascular thrombosis and nerve invasion (P＜0.05).The mutation rate of ERCC1,TP53,and VEGFR were higher in patients with liver metastases (P＜0.05).The gene mutation rates of TOP1,PTEN,KRAS,GSTT1 and TYMS were not related to T stage,N stages,and lung or lymph node metastasis (P＞0.05).Conclusion:The mutation rates of TOP1,MLH1 and PTEN genes in the left and right colon are significantly different.The incidence of ERCC2 and MLH1 mutation are associated with the risk factors such as nerve invasion and vascular carcinoma embolus.The ERCC1,TP53 and VEGFR mutation are associated with trend of liver metastasis.关键词
结肠癌/基因突变/二代测序/临床特征Key words
colorectal cancer/gene mutation/second generation sequencing/recurrence and metastasis分类
医药卫生引用本文复制引用
吴骁,王冰一,陈凯,梁容瑞,李大鹏..二代测序法检测结肠癌基因突变与临床病理特征的关系[J].广西医科大学学报,2017,34(6):828-831,4.基金项目
国家自然科学基金资助项目(No.81402477) （No.81402477）
江苏省自然科学基金青年资助项目(No.BK20140295) （No.BK20140295）
