非小细胞肺腺癌患者恶性胸水表皮生长因子受体基因突变的分析

Detection of EGFR mutations in pleural effusion of patients with non-small cell lung cancer

目的应用ARMS-PCR检测晚期非小细胞肺癌患者恶性胸水中EGFR突变情况。方法收集本院44例非小细胞肺腺癌患者的恶性胸水,每份标本一部分进行直接提取肿瘤细胞DNA,采用ARMS-PCR扩增EGFR的18、19、20和21外显子突变,一部分进行病理包埋和镜检分析,以评估恶性胸水直接检测的可行性;并将部分病例结果与同时期组织或血浆检测结果进行比较分析。结果恶性胸水EGFR的突变率为54.5%,包括19-del和21-L858R突变,各占50.0%;胸水沉渣形态分析有75.0%符合腺癌诊断,无癌细胞胸水中EGFR突变率为27.3%;22例胸水与组织比对一致率为72.7%,16例胸水与血浆比对一致率为50.0%,胸水与组织和血浆的检测结果比较差异均有统计学意义(P<0.05)。结论晚期非小细胞肺癌患者恶性胸水EGFR的突变率比肿瘤组织标本低,肿瘤组织仍是最佳的检测标本。

Objective To detect the consistency of EGFR mutations in pleural effusion in terminal non- small cell lung cancer（NSCLC ）patients by amplification refractory mutation system- polymeric chain reaction （ARMS -PCR）. Methods Pleural effusion from 44 cases with advanced NSCLC were collected. DNA was extracted from a part of pleura｜ effusion, and EGFR genelS, 19, 20, and 2 1 exons mutations were detected by ARMS- PCR amplifi- cation. The left part of pleura1 effusion was used for the pathological microscopic examination of the embedding and to evaluate the feasibility of pleural effusion direct detection. Part of the case results were compared with tissue or pleural effusion at the same time. Results The mutation rate of EGFR detection in pleural effusion was 54.5%, including 19-del （50.0%） and 21- L858R （50.0%） ; 75.0% of pleural effusion sediment was morphologically di- agnosed with adenocarcinoma and EGFR mutation rate was 27.3% in pleural effusion with no tumor cell. The consis- tent rate was 72.7% in 22 cases of pleural effusion and tissue and that was 50.0% in 16 cases of pleural effusion and plasma. The comparison between pleura1 effusion and organizations and plasma test results was statistically signifi- cant （P 〈 0.05）. （P 〈 0.05）. Conclusions EGFR gene mutation rate in pleural effusion is lower than that in tumor tissue specimens in terminal NSCLC patients and tumor tissue is still the best test specimens.