KRAS突变阳性的结直肠癌患者体细胞突变分析

摘要

Objective To analyze the characteristics of KRAS as well as other tumor-related gene mutation in colorectal cancer patients, and provide evidences for treatment and prognosis of these patients.Methods Totally 50 colorectal cancer patients with KRAS exon 2 G12/13 mutation admitted to our hospital from January 2015 to June 2016 were enrolled in this study.Next-generation sequencing (NGS) technology was used to detect the hot spot mutations of 59 tumor-related genes in FFPE samples.Results Totally65 mutations in 12 genes were detected except KRAS.The abundance of mutations was over 10％in TP53 (62％) , APC (46％) , PIK3CA (22％) and SMAD4 (14％) .The mutation frequency or hotspot distribution of these genes was associated with the growth of colorectal tumors.Conclusion TP53, APC, PIK3CA, SMAD4 may be related to KRAS gene and its pathway in colorectal cancer.%目的 分析KRAS突变阳性的结直肠癌患者的肿瘤相关基因突变特征, 为其治疗和预后判断提供依据.方法 入组2015年1月-2016年6月本院50例KRAS exon 2 G12/13突变阳性的结直肠癌肿瘤患者, 用二代测序 (NGS) 技术检测其石蜡样本中59个常见肿瘤相关基因的热点突变.结果 检测到除KRAS外的12个基因65种不同突变, 其中突变样本超过10％的有TP53 (62％) 、APC (46％) 、PIK3CA (22％) 和SMAD4 (14％) .这些基因的突变频率或者突变热点分布与肿瘤组织的生长存在相关性.结论 TP53、APC、PIK3CA、SMAD4与KRAS基因及其通路存在一定的相关性.