肺腺癌胸腔积液上清液和细胞块EGFR基因突变检测的临床意义

Detections of EGFR Gene Mutations in Pleural Effusion and Pleural Fluid Cell Blocks of Patients with Pulmonary Adenocarcinoma

目的比较应用高分辨率熔解曲线(HRM)方法检测肺腺癌胸腔积液上清液和细胞块表皮生长因子受体(EGFR)基因突变状态,为寻找有效的胸腔积液成分进行EGFR基因突变检测提供依据。方法收集2010年9月—2013年5月临床送检肺腺癌胸腔积液标本43例的上清液和细胞块,分别提取DNA,应用HRM方法检测其EGFR基因第18、19、20、21外显子突变情况。结果胸腔积液上清液与细胞块EGFR基因突变率差异无统计学意义(P>0.05)。EGFR基因突变均为第19、21外显子突变,第21外显子基因突变上清液与细胞块结果完全一致。第19外显子基因突变两者略有不同。结论肺腺癌胸腔积液上清液和细胞块均可用于检测其EGFR基因突变状态,但存在假阴性的可能和肿瘤异质性,故建议EGFR检测前兼顾细胞学及HE结果。

Objective To investigate the detections of epidermal growth factor receptor （ EGFR） gene mutations in pleural effusion and pleural fluid cell blocks of patients with pulmonary adenocarcinoma, using high-resolution melting （ HRM） in order to provide experimental basis for the detection of EGFR gene mutation with the effective hydrothorax component. Methods A total of 43 samples of the pleural effusion and pleural fluid cell blocks from patients with pul-monary adenocarcinoma during September 2010 and May 2013 were collected, and then DNA was extracted respectively. The mutations of EGFR genes in exon 18, 19, 20 and 21 were detected using HRM method. Results There was no sig-nificant difference in EGFR gene mutations between pleural effusion and pleural fluid cell blocks （P〉0. 05）. The EGFR gene mutations were found on exon 19 and exon 21, and the mutation on exon 21 was completely consistent between the two components. There was a slight difference on exon 19 mutation. Conclusion It is reliable to detect EGFR gene mu-tation in pleural effusion and pleural fluid cell blocks of patients with pulmonary adenocarcinoma. In case of the false neg-ative cases and tumor heterogeneity, both the results of cytology and HE should be taken into account before the EGFR detection to ensure the reliability of the results.