肺腺癌患者肿瘤组织、胸水癌细胞以及胸水cfDNA的EGFR基因突变状态比较  

Comparisons of EGFR mutation status in tumor tissues, pleural effusion cancer cells and cfDNA samples of patients with lung adenocarcinoma

作　　者：蒋娟[1] 李敏[1] 许娟[1] 曹立明[1] 杨华平[1] 邓彭博[1] 安健[1] 胡成平[1] Jiang Juan;Li Min;Xu Juan;Cao Liming;Yang Huaping;Deng Pengbo;An Jian;Hu Chengping(Department of Respiratory and Critical Care Medicine, National Key Clinical Specialty, Xiangya Hospital, Central South University, Changsha 410008, China)

机构地区：[1]中南大学湘雅医院呼吸与危重症医学科国家临床重点专科,长沙410008

出　　处：《国际呼吸杂志》2019年第3期161-166,共6页International Journal of Respiration

基　　金：国家自然科学基金(81873406);国家重点研发计划(SQ2016YFSF110276).

摘　　要：目的通过检测肺腺癌患者肿瘤组织标本、胸水标本表皮生长因子受体(EGFR)基因突变状态,明确胸水标本能否成为组织标本的替代选择。方法2013年9月至2015年1月中南大学湘雅医院呼吸与危重症医学科符合入选标准的肺腺癌患者46例,收集患者的胸水游离DNA(cfDNA)、胸水癌细胞、肿瘤组织标本。采用液相芯片法检测3种标本EGFR基因突变状态。结果46例患者胸水cfDNA的EGFR基因突变率为43.5%(20/46),胸水癌细胞EGFR基因突变率为36.1%(13/36),肿瘤组织样本的EGFR基因突变率为45.7%(21/46)。胸水cfDNA与组织标本EGFR基因突变一致率为93.5%(43/46),κ=0.868。胸水细胞与组织标本EGFR基因突变一致率为91.7%(33/36),κ=0.822。结论胸水cfDNA标本、胸水细胞标本EGFR基因突变状态与配对组织标本一致性好,当无法获取组织标本时,胸水标本可作为良好替代。Objective To determine whether pleural effusion samples, including cell-free DNA (cfDNA) samples and pleural effusion cancer cells, could be an alternative of tumor tissue samples to test epidermal growth factor receptor (EGFR) gene mutation status. Methods A total of 46 patients with lung adenocarcinoma diagnosed in the Department of Respiratory and Critical Care Medicine, Xiangya Hospital from September 2013 to January 2015 were included in this study.The matched pleural effusion cfDNA samples, cancer cells, tumor tissues samples were collected from these patients.EGFR mutation status in different kinds of samples was determined by liquid-chip platform. Results EGFR mutation was identified in 20 out of 46 (43.5%) pleural effusion cfDNA samples, 13 out of 36 (36.1%) pleural effusion cancer cell samples, and 21 out of 46 (45.7%) matched tumor tissues.The overall concordance of the EGFR gene mutation detected in pleural effusion cfDNA samples and tumor tissue samples was 93.5% (43/46, κ=0.868). The overall concordance of the EGFR gene mutation detected in cancer cell samples and tumor tissue samples was 91.7% (33/36, κ=0.822). Conclusions Pleural effusion cfDNA samples and cancer cell samples have high concordance with matched tumor tissue samples, suggesting that pleural fluid is an alternative for detecting EGFR mutation when the biopsy of tumor tissue is infeasible.

关 键 词：肺腺癌 受体 表皮生长因子 肿瘤 胸水 游离DNA 癌细胞 

分 类 号：R734.2[医药卫生—肿瘤]