非小细胞肺癌患者外周血及胸水中EGFR基因突变的研究

EGFR gene mutation in peripheral blood and fresh hydrothorax of non-small cell lung cancer patients

目的检测非小细胞肺癌患者外周血与新鲜胸水EGFR基因突变率及两者的一致性,探讨外周血标本在EGFR基因突变的临床应用价值。方法采用ARMS法检测51例非小细胞肺癌患者新鲜胸水及其外周血EGFR基因突变状态,比较外周血和新鲜胸水基因突变的一致性,分析EGFR基因突变与患者临床特征关系。结果 51例外周血中检出20例突变(突变率39.2%),其中19del突变11例(55%,11/20),L858R突变8例(40%,8/20),G719X突变1例(5%,1/20);新鲜胸水中检出24例突变(突变率47.1%),其中19del突变13例(54.2%,13/24),L858R突变10例(41.7%,10/24),G719X突变1例(4.1%,1/24)。两者突变一致性为80.4%(41/51),差异具有统计学意义(Kappa=0.603,P=0.000)。外周血及新鲜胸水EGFR基因突变状态均与性别、是否吸烟和病理类型有关(P<0.05),而与年龄及TNM分期无关(P>0.05)。结论非小细胞肺癌患者外周血与新鲜胸水EGFR基因突变一致性较高,在无法获得组织及细胞学标本时可以检测外周血EGFR基因状态,为非小细胞肺癌患者提供临床诊疗帮助。

Objective To detect the consistency of the EGFR gene mutation in peripheral blood and fresh hydrothorax of patients with non-small cell lung cancer and to discuss the clinical application value of EGFR gene mutation in peripheral blood.Methods Amplification refractory mutation system(ARMS)was used to detect the EGFR gene mutation in fresh hydrothorax and the peripheral blood of 51 patients with non-small cell lung cancer,and their consistency was compared.And the correlation was analyzed between EGFR gene mutation and clinical characteristics of the patients.Results The EGFR gene mutation rate was 39.2%in peripheral blood in 51 patients with non-small cell lung cancer,and it was 47.1%in fresh hydrothorax.In peripheral blood,there were 11 cases(55%,11/20)of exon 19 deletion mutation,8 cases(40%,8/20)of exon 21 missense mutation(L858R)and 1 cases(5%,1/20)of exon 18 missense mutation(G719X).In fresh hydrothorax,there were 13 cases(54.2%,13/24)of exon 19 deletion mutation,10 cases(41.7%,10/24)of exon 21 missense mutation(L858R)and 1 cases(4.1%,1/24)of exon 18 missense mutation(G719X).The mutation consistency was 80.4%between the two matched samples.There were significantly statistical differences(Kappa=0.603,P=0.000).The EGFR mutation in peripheral blood and fresh hydrothorax was related with gender,smoking history and histological type(P<0.05),but not with age and clinical stages(P>0.05).Conclusion The consistency of the EGFR gene mutation in peripheral blood and fresh hydrothorax is high.EGFR gene mutation of peripheral blood could be used for clinical diagnosis and treatment in cases when tissue and cytological specimens are unavailable.