ARMS法检测非小细胞肺癌液基细胞学标本中EGFR基因突变  

EGFR mutations detection in non-small cell lung cancer liquid based cytology samples by ARMS method

作　　者：万涛[1] 余雪梅[2] 胡前芳 徐莉[1] 刘金华[1] 李岱容[1] 

机构地区：[1]重庆医科大学附属第一医院呼吸内科,重庆400016 [2]重庆医科大学附属大学城医院检验科,重庆401331

出　　处：《临床与实验病理学杂志》2017年第8期884-890,共7页Chinese Journal of Clinical and Experimental Pathology

基　　金：重庆市科委资助项目(cstc2016shmszx130029)

摘　　要：目的探讨非小细胞肺癌液基细胞学标本在突变扩增阻滞系统(amplification refractory mutation system,ARMS)检测EGFR基因突变中的应用及特点。方法收集诊断阳性的液基细胞学标本,提取样本DNA,采用ARMS法检测EGFR基因突变情况,并分析EGFR基因突变与临床特征、标本类型、病理类型、肿瘤细胞含量等关系。结果 279例液基细胞学样本中检测EGFR基因突变117例,突变率为41.9%,其中腺癌突变率为44.7%,非腺癌突变率为15.4%;细胞学标本中肿瘤细胞含量丰富时、中等时、小的集群、少量时EGFR基因突变率分别为53%、44%、45%、24%;EGFR基因突变标本中,19外显子缺失突变(19Del)发生比例为51.9%,21外显子错义突变L858R发生比例为39.4%。结论各种类型的液基细胞学标本能够很好的用于非小细胞肺癌EGFR基因突变检测;肿瘤细胞含量丰富的样本EGFR基因突变率高于肿瘤细胞含量较少的样本。EGFR基因19Del最为常见。Purpose To explore the application and char- acteristics of liquid - based cytology samples of non - small cell lungcancer for detection of EGFR mutations by ARMS method. Methods The positive samples of liquid-based cytology were collected and the DNA of samples was extracted to detect the EGFR mutations by ARMS method and the analyze the associa- tion with clinical features, types of samples, pathological types and the contents of tumor cells, etc. Results There were 117 genetic mutations detected in 279 hquid-based cytology speci- mens, with the mutation rate of 41.9%. The mutation rate of adencarcinoma was 44. 7% and the other was 11.3%. When the tumor cells in cytology samples were abundant, medium, small clusters and few, EGFR gene mutation rate were 53%, 44% ,45% and 44% respectively. 19Del was 51.9%. Exon 21 L858R missense mutation occurred at 39.4% of EGFR muta- tions. Conclusion All liquid-based cytology of non-small cell lung cancer samples are adequate for EGFR mutation analysis. In the tumor cell-rich samples EGFR gene mutation rate is higher than that of the less tumor cells samples. 19Del is the most com- mon type of EGFR mutations.

关 键 词：肺肿瘤 非小细胞肺癌 液基细胞学 表皮生长因子受体基因突变 突变扩增阻滞系统 

分 类 号：R734.2[医药卫生—肿瘤]