目的:探讨结肠癌基因突变与临床病理特征的关系.方法:回顾性分析2012年1月至2016年12月80例结肠癌患者的临床资料及肿瘤组织和血液循环肿瘤DNA(ctDNA)的二代测序结果.比较结肠癌基因突变与发病部位、临床分期及复发转移等临床病理特征的关系.结果:右半结肠(RCC) TOP1、MLH1、PTEN基因突变率高于左半结肠(LCC) (P＜0.05).与Ⅰ～Ⅱ期相比,Ⅲ～Ⅳ期患者KRAS的突变率更高(P＜0.05).ERCC2突变、MLH1突变的患者更易发生脉管癌栓(P＜0.05),而XRCC1基因突变会使脉管癌栓及神经侵犯的发生率降低(P＜0.05).ERCC1、TP53和VEGFR基因突变率在有无肝转移患者间比较差异具有统计学意义(P＜0.05).TOP1、PTEN、KRAS、GSTT1、TYMS基因突变在T3与T4分期、有无淋巴结转移、有无肺转移及有无腹腔淋巴结转移的患者间比较,差异均无统计学意义(均P＞0.05).结论:RCC和LCC的TOP1、MLH1、PTEN基因突变率存在差异;ERCC2、MLH1基因突变与神经侵犯及脉管癌栓等高危因素有关;ERCC1、TP53和VEGFR基因突变的结肠癌患者更易发生肝转移.%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.
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