晚期非小细胞肺癌患者表皮生长因子受体基因突变状态研究

目的：探讨晚期非小细胞肺癌（non-small-cell carcinoma，NSCLC）患者肺组织或胸水表皮生长因子受体（epider-mal growth factor ，EGFR）基因突变状态，以期为肺癌患者选择靶向治疗提供依据。方法选择经组织学或细胞学确诊为中晚期NSCLC 患者118例，采用扩增受阻突变系统（ ARMS ）-qPCR方法，对不同途径获取的肺组织或胸水细胞块进行EGFR基因（18～21外显子）突变情况测定。结果（1）118例晚期NSCLC患者， EGFR基因突变者45例，突变率为38．1％，其中男性占44.4％，女性占55．6％；（2）不同途径采集的标本，EGFR基因突变率不同，以手术切除和CT引导肺活检标本阳性率较高，胸水细胞块阳性率较低，与前两者比较，差异均有统计学意义（P＜0．05）；（3）不同病期采集的胸水标本阳性率不同，随着肿瘤病情进展，阳性率有增高趋势，但各期比较，差异无统计学意义（P＞0．05）；（4）在EGFR基因突变患者中，以19外显子缺失（占40.0％）和21外显子L858R点突变（占42．2％）比例较高，18外显子缺失（占8．9％）和20外显子缺失（占6．7％）相对较低，后两者与前两者比较，差异均有统计学意义（P＜0．05）；另外发现2例（4．4％）患者为19和21外显子同时突变，其余43例（95.6％）为单基因突变，未发现多基因突变的情况。结论对晚期NSCLC患者应尽可能作EGFR基因检测，以期为选择分子靶向（ TKIs）治疗提供依据。

Research on the gene mutation of epidermal growth factor receptor in the patients with advanced non-small cell lung cancer

Objective To investigate the gene mutation of epidermal growth factor receptor (EGFR) in the lung tissue and pleural fluid of the patients with advanced non-small cell lung cancer (NSCLC), so as to provide medical evidence for the selection of targeted therapy in those patients with lung cancer .Methods One hundred and eighteen patients confirmed to have advanced NSCLC through histology or cytology were chosen for the study .Gene mutation of EGFR ( exon 18-21 ) in the lung tissue and pleural effusion cell block obtained with different methods was detected by using amplification refractory mutation system ( ARMS) -qPCR.Results (1) Of the 118 patients with advanced NSCLC , 45 were detected to have EGFR gene mutation , with the mutation rate of 38.1%, in which male patients accounted for 44.4%and female patients accounted for 55.6%.(2)The rate of EGFR mutation varied with differ-ent ways of sample collection , with surgical excision and CT-guided lung biopsy having relatively higher detection rate and pleural effu-sion cell block having relatively lower detection rate .Statistical significance could be noted , when comparisons were made between them (P<0.05).(3)The positive rate of pleural fluid samples varied with the samples collected at different stages of the disease .With the progress of the disease, the positive rate tended to increase.However, no statistical significance could be seen, when comparisons were made between different stages (P>0.05).(4)In the patients with EGFR gene mutation , the patients with 19 exon deletion and 21 exon L858R mutation had relatively higher proportion , accounting for 40%and 42.2%respectively.The patients with 18 and 20 exon dele-tion had relatively lower proportion , accounting for 8.9%and 6.7%respectively.Statistical significance could be noticed , when com-
parisons were made between the former two exons and the latter two exons (P<0.05).There were another 2 patients with simultaneous mutation of 19 and 21, which accounted for 4.4%of all the patients, and there were 43 patients with single gene mutation , which ac-counted for 95.6%.Detection results revealed that there were no patients with multi-gene mutation.Conclusion The detection of EG-FR gene should be performed in all the patients with advanced NSCLC , in order to provide evidence for the proper selection of targeted molecular therapy .