基于循环肿瘤DNA的全景肿瘤变异分析在晚期肺癌患者中的临床应用  

Clinical application of comprehensive genomic profiling based on circulating tumor DNA in patients with advanced lung cancer

作　　者：姜惠琴 黄斐 陈馨宁 沈敏娜 王蓓丽 潘柏申 郭玮 Jiang Huiqin;Huang Fei;Chen Xinning;Shen Minna;Wang Beili;Pan Baishen;Guo Wei(Department of Laboratory Medicine,Zhongshan Hospital,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属中山医院检验科,上海200032

出　　处：《中华检验医学杂志》2023年第9期899-903,共5页Chinese Journal of Laboratory Medicine

基　　金：上海市青年科技英才扬帆计划(21YF1440200);上海市临床重点专科建设项目(shslczdzk03302);上海市宝山区医学重点专科项目(BSZK2023A18);国家自然科学基金(81972000,82172348,81902139)。

摘　　要：目的评估基于循环肿瘤DNA(ctDNA)的全景肿瘤变异分析在晚期肺癌中的临床应用。方法这是一项单中心、回顾性研究,筛选2022年2月至2023年3月就诊于复旦大学附属中山医院的晚期肺癌患者,所有患者均接受基于ctDNA的全景肿瘤变异分析,最终纳入76例患者。收集晚期肺癌患者的外周血,使用TruSight Oncology 500 ctDNA试剂盒进行基因变异分析。按照美国分子病理学协会/美国临床肿瘤学会/美国病理学家协会联合制定的体细胞变异解读指南将变异分为Ⅰ~Ⅳ级,评估ctDNA指导靶向治疗的有效性。基本特征采用描述性统计,TMB相关因素的分析采用秩和检验。结果ctDNA检测成功率为92.7%(76/82)。ctDNA检测的周转时间为10.5(9,13)d。82.9%(63/76)的患者至少检出1个可治疗变异(即Ⅰ类或Ⅱ类变异),28.6%(18/63)的患者接受了相应的靶向治疗,并获得了18/18的疾病控制率以及12/18的客观缓解率。结论基于ctDNA的全景肿瘤变异分析可有效检出晚期肺癌患者携带的基因变异,并为靶向治疗提供有价值的信息。Objective This work aims to evaluate the clinical values of comprehensive genomic profiling examination based on circulating tumor DNA(ctDNA)in advanced lung cancer patients.Methods This is a single-center,retrospective study that collected peripheral blood samples from patients with advanced lung cancer and performed gene mutation analysis using the TruSight Oncology 500 ctDNA assay kits.Between February 2022 and March 2023,a total of 82 patients were enrolled in Zhongshan Hospital,Fudan University,and 76 patients were included in the final analysis.According to the AMP/ASCO/CAP guidelines,mutations of targeted genes were divided into four levels(Tier I-IV),and the effectiveness of targeted therapy guided by ctDNA was evaluated.Descriptive statistics were used for basic characteristics,and the analysis of factors related to tumor mutational burden(TMB)was performed using the rank-sum test.Results The ctDNA detection success rate was 92.7%(76/82).The median turnaround time for ctDNA testing was 10.5 days(9,13 days).At least one actionable mutation(Tier I orⅡ)was detected in 82.9%(63/76)of patients,and 28.6%(18/63)of patients received matched therapy,achieving a disease control rate of 18/18 and an objective response rate of 12/18.Conclusion Comprehensive genomic profiling based on ctDNA can effectively identify actionable alterations in patients with advanced lung cancer and provide valuable information for matched therapy.

关 键 词：DNA 肿瘤 肺肿瘤 肿瘤全景变异分析 

分 类 号：R734.2[医药卫生—肿瘤]