Purpose To explore the application and characteristics of liquid-based cytology samples of non-small cell lung cancer 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 association with clinical features,types of samples,pathological types and the contents of tumor cells,etc.Results There were 117 genetic mutations detected in 279 liquid-based cytology specimens,with the mutation rate of 41.9％.The mutation rate of adencarcinoma was 44.7％ and the other was 11.3％.When the tumor ceils 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 21L858R missense mutation occurred at 39.4％ of EGFR mutations.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 common type of EGFR mutations.%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EG-FR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.
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