非小细胞肺癌原发灶与相应转移灶之间EGFR基因突变状况的不一致性研究

Discordance of Epidermal Growth Factor Receptor Mutations between Primary and Corresponding Metastatic Tumors in Non-small Cell Lung Cancer

背景与目的表皮生长因子受体(epidermal growth factor receptor,EGFR)突变是晚期非小细胞肺癌(non-small cell lung cancer,NSCLC)患者获益于酪氨酸激酶抑制剂(tyrosine kinase inhibitor,TKI)治疗的预测因子,本研究旨在探讨NSCLC原发灶与相应转移灶之间EGFR基因突变状况的不一致性。方法应用TaqManRT-PCR的方法检测35例病理确诊为NSCLC患者原发灶和相应转移灶的EGFR基因突变状况。结果原发肺癌病灶中有29例为EGFR基因突变型,余下6例为EGFR野生型。35例转移灶中18例为EGFR基因突变型,17例为EGFR野生型。35对配对标本中,11对(31.43%)标本出现原发灶EGFR基因突变,而转移灶为EGFR基因野生型,18对原发灶及转移灶均为EGFR基因突变型,且突变具体位点相同,6对原发灶及转移灶均为EGFR基因野生型。NSCLC原发灶与转移灶的EGFR基因表达不一致率为31.43%(11/35,P=0.008)。结论 NSCLC原发灶与转移灶的EGFR基因表达存在不一致性。

Background and objective Epidermal growth factor receptor （EGFR） gene mutation assay has been applied to select the chemosensitive patients for tyrosine kinase inhibitor （TKI） treatment widely. The aim of this study is to determine the discordance of EGFR mutations between primary and corresponding metastatic tumors in non-small cell lung cancer （NSCLC）. Methods Thirty five paired primary tumors and corresponding metastases from Cancer Center of Sun Yat-sen University were evaluated for the EGFR mutations by TaqMan RT-PCR analysis. Results EGFR mutations were detected in 29 of 35 primary tumors and in 18 of 35 corresponding metastases. 31.43% （11 of 35, P=0.008） showed discordance in EGFR mutations between primary tumors and corresponding metastases. The EGFR mutation status was consistent in 68.57% （24 of 35） patients. Conclusion EGFR mutations were discordant between the primary tumor and the corresponding metas-tases in NSCLC.