HRM方法检测肺腺癌胸水细胞块中EGFR基因突变的临床意义

Clinical significance of HRM to detect EGFR gene mutations in the pleural fluid cell blocks of patients with lung adenocarcinoma

目的:探讨应用HRM方法检测肺腺癌患者胸水细胞块中癌细胞EGFR基因突变的临床价值。方法:收集43例肺癌阳性胸水标本,制作胸水细胞块,经HE及免疫组化染色确诊为肺腺癌,常规提取DNA,应用HRM方法检测EGFR基因第18-21外显子突变。所有标本均经基因测序法验证。结果:43例肺腺癌胸水细胞块中,HRM法检测出EGFR基因突变共15例,总突变率为34.88%。基因测序检测出EGFR基因突变共14例,总突变率为32.56%。两者的突变率差异有统计学意义。结论:对难以获得肺癌组织标本的肺腺癌患者可应用HRM方法检测胸水细胞块,筛查EGFR基因突变,指导EGFR酪氨酸激酶受体抑制剂应用。

Objective：To explore the clinical significance of HRM to detect EGFR gene mutations in the pleural fluid cell blocks of patients with lung adenocarcinoma. Methods：The pleural fluid cell blocks from 43 patients with lung adenocarcinoma were collected after distinguish diagnoses by immuocytochemistry. The mutations of EGFR gene in exon 18 -21 were detected with HRM and verify with gene sequencing method. Results：In 43 pleural fluid cell blocks, there were 15 cases（ 34.88% ） with EGFR mutations using HRM method,while 14 cases （32.56%） with EG- FR mutations using gene sequencing method. There was significant difference between two methods. Conclusion ： It is helpful to patients with lung adenocarcinoma who have lost the operation opportunity to detect the gene mutation in the pleural fluid cell blocks with HRM. It＇s necessary to specify the mutation types and to use for clinical EGFR - TKI which can provide important basis for molecular target therapy.