二代测序技术检测内蒙古地区晚期肺腺癌病人血浆循环肿瘤DNA中表皮生长因子受体突变状态的应用价值

Application value of NGS for the detectation of EGFR mutation in plasma ctDNA of patients with advanced lung adenocarcinoma in Inner Mongolia

目的探讨二代测序技术检测血浆循环肿瘤DNA(ctDNA)中表皮生长因子受体(EGFR)突变状态在内蒙古地区晚期肺腺癌病人中的应用价值。方法分析内蒙古自治区人民医院2016年11月至2017年12月符合条件的50例晚期肺腺癌病人,采用突变阻滞扩增系统PCR(ARMS-PCR)法检测组织样本、二代测序技术检测血浆ctDNA中EGFR突变情况,比较两种检测方法的一致性,并以组织检测作为金标准,评价二代测序技术的有效性。结果以组织检测结果为金标准,血浆ctDNA中EGFR突变检测的灵敏度为96%,特异度为68%,一致率为84%。结论基于二代测序的血浆EGFR突变检测与组织样本检测具有较好的一致性(Kappa=0.66,P=0.001),可以通过二代测序技术来反映晚期肺腺癌病人的EGFR突变情况。

Objective To explore the application value of next generation sequencing(NGS)for the detection of epidermal growth factor receptor(EGFR)mutation in plasma circulating tumor DNA(ctDNA)of patients with advanced lung adenocarcinoma in Inner Mongolia.Methods Fifty eligible patients with advanced lung adenocarcinoma treated in Inner Mongolia Autonomous Region Peo⁃ple's Hospital from November 2016 to December 2017 were included.Amplification refractory mutation system PCR(ARMs-PCR)method was used to detect the paraffin-embedded tissue and NGS technology was used to detect the EGFR mutation in plasma ctDNA.The consistency of the two detection methods was studied,and the effectiveness of NGS technology was evaluated with tissue detection as the gold standard.Results Taking tissue test results as the gold standard,the sensitivity of EGFR mutation detection in plasma ctD⁃NA was 96%,the specificity was 68%,and the consistency rate was 84%.Conclusion NGS-based plasma EGFR mutation detection has good consistency with tissue sample detection(Kappa=0.66,P=0.001),and thus NGS technology can be used to reflect the EGFR mutation of patients with advanced lung adenocarcinoma.