外周血循环肿瘤DNA基因突变检测在非小细胞肺癌中的应用价值  

The value of detection of gene mutations in peripheral circulating tumor DNA in non-small cell lung cancer

作　　者：徐敏[1] 何婉[1] 李岚[1] 朱美琴[1] 陈亦欣[1] 许瑞莲[1] 

机构地区：[1]暨南大学第二临床医学院深圳市人民医院肿瘤内科,深圳市肿瘤研究所,深圳518020

出　　处：《新医学》2016年第6期380-383,共4页Journal of New Medicine

基　　金：深圳市科技计划项目(JCYJ20150403101146278)

摘　　要：目的探讨高通量基因测序技术检测外周血循环肿瘤DNA（ctDNA）基因突变在非小细胞肺癌（NSCLC）中的应用价值。方法用高通量测序技术同时检测32例晚期NSCLC患者的外周血ctDNA和组织石蜡切片DNA（tDNA）的基因突变情况，并以tDNA为金标准，评价ctDNA诊断NSCLC基因突变的效能。结果32例NSCLC患者中，ctDNA检出基因突变9种42例次，tDNA检出基因突变11种40例次。以tDNA检出的基因突变结果为金标准，外周血ctDNA诊断NSCLC基因突变的敏感度为75％～100％，特异度达95％～100％，与tDNA结果的总体符合率为91％～100％。结论高通量基因测序技术检测NSCLC患者外周血ctDNA，可代替肿瘤组织切片了解基因突变情况。Objectives To investigate the value of gene mutations in peripheral circulating tumor DNA( ctDNA) in non-small cell lung cancer( NSCLC) by next-generation sequencing. Methods The gene mutations in peripheral ctDNA and t DNA of tissued paraffin sections in 32 advanced patients with NSCLC were simultaneously detected by next-generation sequencing,and regarded the tissue tumor DNA as the correct standard to evaluate the efficiency of ctDNA diagnosing the gene mutations in NSCLC. Results Among 32 patients with NSCLC,42 samples of gene mutations in 9 types were detected in terms of ctDNA and 40 samples of gene mutations in 11 types were detected in t DNA. The result of t DNA gene mutations was regarded as the correct standard. Sensitivity of detection of gene mutations in peripheral circulating tumor DNA was 75% ~ 100%,and specificity was 95% ~ 100%. The concordance rate between result of t DNA and ctDNA was 91% ~ 100%.Conclusion To test mutations in NSCLC patients,detection of ctDNA is possible to replace tumor tissue paraffin sections by NGS.

关 键 词：非小细胞肺癌 高通量测序 循环肿瘤脱氧核糖核酸 

分 类 号：R734.2[医药卫生—肿瘤]