非小细胞肺癌患者外周血ctDNA样本中EGFR-T790M基因突变分析  

Analysis of epidermal growth factor receptor gene T790M mutation in plasmatic ctDNA samples of patients with non-small cell lung cancer

作　　者：杜亚茜[1] 马煜辉 杨长绍[1] 叶联华[2] 丁晓洁 李权 郭银金 刘俊熙 黄云超[1,2] 周永春[1] 

机构地区：[1]昆明医科大学第三附属医院(云南省肿瘤医院),教育部高原区域性高发肿瘤国际合作联合实验室/云南省肿瘤研究所/云南省肺癌研究重点实验室/昆明市肺癌研究重点实验室,650118 [2]昆明医科大学第三附属医院(云南省肿瘤医院)胸心外科,650118

出　　处：《实用医学杂志》2017年第19期3228-3232,共5页The Journal of Practical Medicine

基　　金：国家自然科学基金(地区科学基金)(编号:81460441);云南省科技厅-昆明医科大学联合专项(编号:2013FB165);云南省卫生科技计划项目(编号:2014NS001)

摘　　要：目的采用液体活检技术检测171例NSCLC患者外周血ct DNA样本中EGFR-T790M的突变情况,并结合其临床病理特征进行分析。方法采用超级扩增阻碍突变系统(super ARMS)法检测171例样本中EGFR-T790M的突变情况。结果在171例样本中T790M基因的突变率为7.60%(13/171),且多数为Ⅲb~Ⅳ期的肺癌患者。未经TKIs治疗样本的T790M突变率为2.05%(3/146)明显低于经TKIs治疗后样本的突变率40.00%(10/25,P<0.001)。服用第一代TKI药物时间在6~10个月或>10个月样本的T790M突变率分别为75.00%(3/4)和60.00%(6/10)明显高于服药时间<6个月的T790M突变率9.10%(1/11,P=0.033,P=0.023)。结论 EGFR-T790M基因突变多见于有TKI用药史且服药时间>6个月的晚期NSCLC患者,动态检测EGFR-T790M的突变状态可有效指导临床的用药。Objective To investigate epidermal growth factor receptor （EGFR） gene T790M mutation in plasmatic ctDNA samples from 171 patients with non-small cell lung cancer and analyze the relationship between EGFR T790M mutation and the clinical factors. Methods The EGFR T790M mutation was detected in 171 cases by super amplification refractory mutation system （Super ARMS） in this paper. Rusults The EGFR gene T790M mutation was identified in 7.60 %（ 13/171 ） plasmatic ctDNA samples which mostly came from patients with rob-IV stages of lung cancer. The EGFR T790M mutation rate was identified in 2.05% （3/146） plasmatic samples of pa- tients who did not received treatment of EGFR-TKIs, which was lower than 40.00% （ 10/25, P 〈 0.05 ） plasmatic samples of patients who received treatment of first generational EGFR-TKIs. The EGFR T790M mutation rate was identified in 75.00% （3/4） and 60.00% （6/10） plasmatic samples of patients who have received TKI for 6 to 10 months and more than 10 months, which was higher than 9.10% （1/11, P 〈 0.05） plasmatic samples of patients who have received TKIs for less than 6 months. Conclusions This article demonstrated that EGFRT790M muta- tion was more common in lately NSCLC patients who have received TKIs treatmentover 6 months, meanwhile the EGFR T790M mutation dynamical detective technology will effectively guide the clinic treatment.

关 键 词：非小细胞肺癌 CTDNA T790M突变 super ARMS 

分 类 号：R734.2[医药卫生—肿瘤]