二代测序技术检测结直肠癌驱动基因突变分析

Analysis of driver gene mutations in colorectal cancer by using next-generation sequencing

目的用二代测序技术(NGS)检测结直肠癌患者的基因状态特征。方法收集2016年8月至2020年12月90例结直肠癌患者血液和组织样本,利用NGS技术1021panel进行检测分析驱动基因突变情况。结果43例组织标本和83份血液标本,同时有血液和组织标本患者36例。组织标本中KRAS和BRAF突变比例分别为51.2%(22/43)和20.9%(9/43),同时发现3例罕见的KRAS与BRAF共突变;血液标本中KRAS和BRAF突变比例分别为26.5%(22/83)和10.8%(9/83);同时有血液和组织标本患者的KRAS和BRAF突变比例分别为52.8%(19/36)和10.8%(8/36)。结论结直肠癌患者中组织标本KRAS突变和文献报道的比例相似,BRAF突变比例更高,罕见KRAS与BRAF共突变的比例也高于国外报道。

Objective To investigate the characteristics of gene mutations in colorectal cancer(CRC)patients by using next-generation generation sequencing(NGS).Methods Blood and tissue samples were collected from 90 CRC patients admitted to Beijing Hospital between August 5,2016 and December 29,2020.Analysis of driver gene mutations was performed by using a 1021-gene NGS panel.Results There were 43 tissue samples and 83 blood samples.Also,36 patients had both tissue and blood samples.The frequency rates of KRAS and BRAF mutations were 51.2%(22/43)and 20.9%(9/43)in tissue samples,and 3 rare concomitant KRAS/BRAF mutations were detected.The frequency rates of KRAS and BRAF mutations were 26.5%(22/83)and 10.8%(9/83)in blood samples.In patients with tissue and blood samples,the rates of KRAS and BRAF mutations were 52.8%(19/36)and 10.8%(8/36).Conclusions The rate of KRAS mutations in tissue samples from colorectal cancer patients is similar to rates reported in the literature,but the rate of BRAF mutation and the rate of rare KRAS and BRAF co-mutations are higher than those reported from other countries.