非小细胞肺癌患者外周血与组织中EGFR基因突变的研究

EGFR gene mutation in peripheral blood and tumor tissue of non small cell lung cancer patients

目的检测非小细胞肺癌患者外周血与肿瘤组织EGFR基因突变率及两者的一致性,探讨外周血EGFR基因突变的临床应用价值。方法应用实时荧光定量PCR方法检测453例非小细胞肺癌组织,229例非小细胞肺癌外周血,其中132例外周血标本和组织标本配对,检测其中EGFR基因突变,比较外周血和组织标本突变一致性,分析EGFR基因突变和患者临床特征相关性。结果外周血标本中检测出66例突变(28.82%),组织中185例突变(40.84%),两种标本一致性为84.09%,差异有统计学意义(Kappa=0.652,P=0.000)。结论非小细胞肺癌患者外周血与组织EGFR基因突变一致性较高,在无法获得组织学标本时可以检测外周血EGFR基因状态,为非小细胞肺癌的临床诊疗提供帮助。

Objective To detect the consistency of the EGFR gene mutation in peripheral blood and tumor tissue of patients with non small cell lung cancer and discuss the clinical application value of EGFR gene mutation in peripheral blood.Methods Real-time fluorescent quantitative PCR was used to test the tissues in 453 patients of non small cell lung cancers and the peripheral blood samples in 229 patients of non small cell lung cancer,of which 132 cases of peripheral blood specimens could match the tissue samples,and detected the EGFR gene mutation in them by comparison of mutations consistency in blood and tissue samples,and analyzed the correlation between EGFR gene mutations and clinical characteristics of patients.Results The EGFR gene mutation rate was 28.82 % in peripheral blood of 66 patients with non small cell lung cancer,and was 40.84% in 185 cancer tissues,the mutation consistency was 84.09% in peripheral blood-tumor tissue matched samples.There were statistical significantly differences （Kappa=0.652,P=0.000）.Conclusion The consistency of the EGFR gene mutation in peripheral blood and tissue is high.EGFR gene mutations of peripheral blood could he used for clinical diagnosis and treatment in cases when tissue specimen is hard to get.