HRM方法检测肺腺癌患者癌性胸水上清液EGFR基因突变的临床意义

Clinical significance of HRM to detect EGFR gene mutations in pleural effusion of patients with lung adenocarcinoma

目的:探讨应用HRM方法检测肺腺癌患者癌性胸水上清液EGFR基因突变状况及EGFR酪氨酸激酶受体抑制剂治疗的可行性。方法:收集43例肺腺癌患者癌性胸水上清液标本,提取DNA,应用HRM方法检测EGFR基因第18、19、20、21外显子突变状况。统计分析HRM方法与基因测序法检测EGFR突变率的差异。结果:43例肺腺癌患者癌性胸水上清液中,HRM法检测EGFR基因突变共17例,总突变率为39.53%,其中第19外显子突变14例,第21外显子突变3例。基因测序结果显示:EGFR突变14例,总突变率为32.56%,均为第19外显子突变。HRM方法检测第21外显子突变阳性的患者其基因测序结果均为阴性。这可能与HRM方法检测的灵敏度优于测序方法有关。两者突变率差异无统计学意义(P>0.05)。结论:对难以获取组织标本的肺腺癌患者而言,应用HRM方法检测其癌性胸水上清液,是了解其EGFR基因突变状况的可靠途径,对临床筛查靶向治疗药物具有一定的参考价值。

Objective：To explore the clinical significance of HRM to detect EGFR gene mutations in pleural effu-sion of patients with lung adenocarcinoma for directing EGFR tyrosine kinase inhibitor therapy. Methods：The pleural effusion of 43 patients with lung adenocarcinoma were collected after distinguish diagnosticate by cell smear and con-ventional differential diagnosis of cell block. The mutations of EGFR genes in exon 18 -21 were detected by HRM （ high-resolution melting,HRM）and gene sequencing. Results：In pleural effusion of 43 patients with lung adeno-carcinoma,17 cases（39. 53%）of EGFR mutations were detected by HRM,while 14 cases（32. 56%）by gene se-quencing. There was not significant difference between the two methods. Conclusion：On the basis of successful diag-nosis and classification in cell block,EGFR gene mutation with HRM detection in pleural effusion of patients with lung adenocarcinoma,this technology is reliable and accurate,it not only lead targeted drug screening,but also provide targeting therapy of conclusive laboratory basis for advanced stage of patients with lung adenocarcinoma without sur-gery opportunity.