直接测序法与荧光定量PCR法检测非小细胞肺癌EGFR基因突变对比分析  

Comparison of direct sequencing and fluorescence quantitative PCR for EGFR mutations detection in Non-small cell lung cancer

作　　者：闵生萍[1] 

机构地区：[1]蚌埠医学院第一附属医院呼吸与危重症医学科,安徽蚌埠233040

出　　处：《淮海医药》2016年第6期633-635,共3页Journal of Huaihai Medicine

摘　　要：目的:比较直接测序和荧光定量PCR法检测非小细胞肺癌(NSCLC)EGFR基因突变状态结果的差异。方法:分别采用荧光定量PCR(蝎形探针扩增阻滞突变系统ARMS)和直接测序法检测155例石蜡包埋NSCLC样本中EGFR基因18,19,20,21号外显子突变状态,比较检测结果的差异。结果:80例手术切除样本中,直接测序检测EGFR突变阳性者25例(31.25%),ARMS法为28例(35%),差异无统计学意义(P>0.05);75例活检样本中,直接测序检测EGFR突变阳性者19例(25.33%),ARMS法为26例(34.67%),差异具有统计学意义(P<0.05)。结论:对于手术切除样本,直接测序和ARMS法均可有效检测出EGFR基因突变状态;但对于活检组织样本,ARMS较直接测序灵敏性更高。Objective： To compare the differences between fluorescence quantitative PCR and direct sequencing of detecting EGFR mutations in non-small cell lung cancer. Methods： Both direct sequencing and fluorescence quantitative PCR（ amplification refractory mutation system,ARMS） were used to detect EGFR mutations in exon 18,19,20,and 21 in 155 formalin-fixed and parrffin-embeded（ FFPE） NSCLC specimens,and the differences between the two methods were analyzed. Results： In 80 surgical excision samples,EGFR mutations were identified in 25 cases with a mutation rate of 31. 5% by direct sequencing,and in 28 cases with a mutation rate of35% by ARMS,showing no statistical differences in the two detections（ P〉0. 05）. In 75 biopsy specimens,EGFR mutations were identified in 19 cases with a mutation rate of 25. 33% by direct sequencing,while in 26 cases with a mutation rate of 34. 67% by ARMS. There were significant differences of EGFR mutation rate between the two methods（ P〈0. 05）. Conclusion： Both direct sequencing and ARMS can effectively identify EGFR mutation in surgical excision samples,but in biopsy specimens,ARMS gains a higher sensitivity than direct sequencing in detection of EGFR mutation.

关 键 词：癌 非小细胞肺 表皮生长因子受体 基因突变 直接测序 荧光光定量PCR 

分 类 号：R734.2[医药卫生—肿瘤]