非小细胞肺癌组织、血液及胸水EGFR基因突变分析

Analysis of EGFR gene mutation in tissues,blood and hydrothorax of non-small cell lung cancer

目的探讨非小细胞肺癌(non-small cell lung cancer,NSCLC)患者的EGFR突变情况及血液和胸水标本"液体活检"的可行性。方法收集2015年1月～2017年12月南昌大学第二附属医院确诊为NSCLC患者的肿瘤组织、血液及胸水标本,利用突变扩增系统-聚合酶链式反应(amplification refractory mutation system-polymerase chain reaction,ARMS-PCR)检测EGFR的突变,并分析血液、胸水标本与配对肿瘤组织标本EGFR检测的一致性。结果组织标本EGFR突变率为49. 03%(330/673),突变主要发生于女性、腺癌及低于60岁患者中。与肿瘤组织相匹配的血液、胸水标本检测显示EGFR突变的一致性较好,Kappa值分别为0. 65、0. 82。结论 NSCLC患者EGFR的总突变率为49. 03%,女性、腺癌、低于60岁患者可能是EGFR突变的好发人群;血液、胸水标本中EGFR基因的检测与肿瘤组织标本相比具有较好的一致性;在肿瘤组织缺乏时,可以考虑采用血液、胸水标本进行EGFR基因检测。

Purpose To analyse the mutation of EGFR in patients with non-small cell lung cancer (NSCLC) and to explore the feasibility of “liquid biopsy” based on blood and hydrothorax samples in clinic. Methods Tissue,blood and hydrothorax samples of patients with NSCLC in the Second Affiliated Hospital of Nanchang University from January 2015 to December 2017 were collected. Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was used to detect the mutation of EGFR,the consistency of EGFR detection between blood or hydrothorax with matched tumor tissue samples was analysed. Results The mutation rate of EGFR in tissue samples was 49.03%,the mutation mainly occured in female,adenocarcinoma and less than 60 years old patients. The detection of EGFR mutation in blood and hydrothorax samples matched with tumors showed good consistency with kappa values of 0.65 and 0.82,respectively. Conclusion The mutation rate of EGFR in NSCLC patients is 49.03%. Female,adenocarcinoma and less than 60 years old may be the dominant group of EGFR mutation. The detection of EGFR mutation in blood and hydrothorax samples is in good agreement with that in tumor tissues. In the absence of tumor tissues,blood and hydrothorax can be used to detect EGFR gene.