非小细胞肺癌患者组织原发灶和转移灶中EGFR基因突变的研究

Study on the EGFR mutation in advanced primary non-small cell lung cancer and associated metastatic lesions

目的研究晚期非小细胞肺癌(NSCLC)原发灶和转移灶EGFR基因突变情况,探讨其相关性。方法收集原发灶288例,其中配对转移灶184例,统计得出EGFR基因突变率并分析原发灶与转移灶EGFR基因的一致性、EGFR基因突变与临床基线资料间的关系。结果 EGFR基因突变率原发灶为38.89%。EGFR基因突变率配对原发灶为35.87%,配对转移灶为40.76%;配对的184对原发灶、转移灶组织中,转移灶基因突变而对应的原发灶基因野生16例,原发灶基因突变而对应的转移灶基因野生7例;转移灶较原发灶检出EGFR基因突变率高,两者差别有统计学意义(χ~2=100.807,P=0.000);转移灶和原发灶EGFR基因突变的一致率好(κ=0.740),通过转移灶判断原发灶基因突变的情况,敏感性为89.39%,特异性为86.44%。结论非小细胞肺癌中转移灶可以预测原发灶EGFR基因突变情况,在难以取得原发灶的情况下转移灶可以作为EGFR基因突变检测的备选手段。

Objective To detect the positive rate of EGFR gene mutation in primary and metastatic non-small cell lung cancer（NSCLC）,and explore their relationships.Methods 288 cases of primary NSCLC consisting of 184 cases of paired metastatic tumors were collected.The positive rate of EGFR gene mutation among NSCLC population was figured out,thus the consistency of EGFR gene mutation in advanced primary NSCLC and associated metastases and the relationship between EGFR gene mutation and clinical data was analyzed.Results The positive rate of EGFR gene mutation on primary tumor was 38.89%.For those 184 paired cases,the positive rate on primary tumor was 35.87%,with that of metastases 40.76%.Among the 184 cases,there were 16 cases whose metastases were positive but primary tumors negative and 7case whose primary tumor was positive but metastases negative.Positive rate of EGFR gene mutation was higher in the primary lesions than metastases.There were statistical significantly differences between the two groups（χ~2=100.807,P=0.000）.The positive rate of primary tumors could be predicted by metastases（κ=0.740）.The sensitivity was 89.39% and the specificity was 86.44%.Conclusion The metastases of non-small cell lung cancer can predict EGFR gene mutation of the primary lesions.It can be used as alternative means for metastases to detect EGFR gene mutation when it is difficult to obtain primary tumors.