非小细胞肺癌患者胸腔积液与外周血ctDNA中EGFR基因突变检测的对比研究

Comparison of EGFR gene mutation detection between pleural effusion and peripheral blood ctDNA in patients with non-small cell lung cancer

目的比较晚期非小细胞肺癌(NSCLC)患者胸腔积液与外周血循环肿瘤DNA(ct DNA)中EGFR基因突变间的差异。方法用高通量测序技术同时检测22例晚期NSCLC患者的胸腔积液ct DNA与外周血ct DNA的EGFR基因突变情况,以外周血ct DNA为金标准,分析胸腔积液ct DNA对EGFR基因突变的检测效果。结果以外周血ct DNA检出的EGFR基因突变结果为金标准,胸腔积液ct DNA中检出NSCLC基因突变的灵敏度为86%~100%,特异度达94%~100%,与外周血ct DNA结果的总体符合率为95%~100%,且胸腔积液ct DNA检测出的突变丰度高于外周血ct DNA(P=0.002)。结论晚期NSCLC患者胸腔积液和外周血ct DNA中EGFR基因突变检测结果一致,胸腔积液检测丰度较高,具有良好的临床应用价值。

Objective To compare the differences in the EGFR gene mutation detection between the pleural effusion and peripheral blood circulating tumor DNA（ ct DNA） in patients with advanced-stage nonsmall cell lung cancer（ NSCLC）. Methods The EGFR gene mutation in the pleural effusion and peripheral blood ct DNA of 22 patients with advanced-stage NSCLC were detected by next-generation sequencing（ NGS）.The ct DNA gene detection in the peripheral blood was considered as the golden standard. The detection effect of EGFR gene mutation upon the pleural effusion ct DNA was evaluated. Results The EGFR gene mutation in the peripheral blood ct DNA was considered as the golden standard. The sensitivity of detection of NSCLC gene mutation in pleural effusion ct DNA was 86%-100% and the specificity was 94%-100%. The overall consistent rate with the results of peripheral blood ct DNA was ranged from 95% to 100%. The mutation abundance detected in the pleural effusion ct DNA was significantly higher than that in the peripheral blood ct DNA（ P = 0. 002）.Conclusions The outcomes of EGFR gene mutation are consistent between the pleural effusion and peripheral blood of patients with advanced NSCLC. The mutation abundance of the pleural effusion is higher compared with that of the peripheral blood,which is worthy of clinical significance.