非小细胞肺癌患者不同类型样本EGFR基因突变分析

Analysis of EGFR gene mutations in different types of samples from non-small cell lung cancer patients

目的:探讨非小细胞肺癌(non-small cell lung cancer,NSCLC)患者不同类型样本表皮生长因子受体(EGFR)基因突变状态及临床意义。方法:采用扩增阻滞突变(amplification refractory mutation system,Arms)-荧光定量PCR(QPCR)、超级(super)Arms-QPCR分别检测NSCLC石蜡组织、细胞学涂片及外周血中EGFR基因突变状态,同时分析EGFR、19号外显子缺失(E19-DEL)、21号外显子L858R(E21-L858R)点突变与患者的性别、年龄、样本类型的相关性。结果:705例NSCLC患者中EGFR突变率为52.06%(367/705),与患者的性别、年龄和样本类型有关;女性患者突变率(67.69%)显著高于男性(38.68%,χ^2=59.06,P<0.01),年龄≤60岁(58.23%)高于年龄>60岁(48.93%,χ^2=5.45,P<0.05),石蜡组织样本的突变率(53.77%)显著高于细胞学涂片(47.62%)、外周血样本(28.13%,χ^2=8.56,P<0.01)。E19-DEL突变率为46.87%(172/367),女性患者(32.31%)显著高于男性(17.63%,χ^2=20.5,P<0.01),年龄≤60岁(29.11%)明显高于>60岁(22.01%,χ^2=4.31,P<0.05)。E21-L858R突变率为39.78%(146/367),女性患者(28.62%)显著高于男性(13.95%,χ^2=22.95,P<0.01),石蜡组织(22.30%)明显高于细胞学涂片(12.70%)、外周血样本(6.25%,χ^2=7.47,P<0.05)。结论:不同类型样本EGFR基因突变状态存在差异,临床医师应正确送样检测。

Objective:To investigate the mutation status and clinical significance of epidermal growth factor receptor(EGFR)gene in the different types of samples from non-small cell lung cancer(NSCLC)patients.Methods:Arms-QPCR and Super Arms-QPCR were used to detect the mutation status of EGFR gene in paraffin tissues,cytological smears and peripheral blood of NSCLC,respectively.The correlation between EGFR,Exon 19 deletion(E19-DEL),Exon 21 L858R point mutation(E21-L858R)and clinical characteristics of patients were analyzed.Results:The mutation rate of EGFR in 705 NSCLC patients was 52.06%(367/705),which was related to gender,age and sample type of patients.The mutation rate of female patients(67.69%)was significantly higher than that of male(38.68%,χ^2=59.06,P<0.01),The mutation rate of age≤60 years old(58.23%)was higher than that of>60 years old(48.93%,χ^2=5.45,P<0.05).The mutation rate of paraffin tissue samples(53.77%)was higher than that of cytological smears(47.62%)and peripheral blood samples(28.13%,χ^2=8.56,P<0.01).The mutation rate of E19-DEL was 46.87%(172/367),the mutation rate of female patients(32.31%)was significantly higher than that of male patients(17.63%,χ^2=20.5,P<0.01),the mutation rate of age≤60 years old(29.11%)was higher than that of age>60 years old(22.01%,χ^2=4.31,P<0.05).The mutation rate of E21-L858R was 39.78%(146/367),the mutation rate of female patients(28.62%)was significantly higher than that of male patients(13.95%,χ^2=22.95,P<0.01),the mutation rate of paraffin tissue samples(22.30%)was higher than that of cytological smears(12.70%)and peripheral blood samples(6.25%,χ^2=7.47,P<0.05).Conclusion:EGFR gene mutation in different samples is different,clinicians should send optimal samples for detection.