Wu Yuanzhou, Chen Qunqing, Zhang Qiangzu, Li Man, Li Hui, Jia Longfei, Huang Yang, Zhang Jian
Department of Thoracic Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Phil Rivers Technology, Beijing, China.
Ann Transl Med. 2021 Sep;9(18):1453. doi: 10.21037/atm-21-4117.
Non-small cell lung cancer (NSCLC) has the highest cancer mortality rate in the world, but currently there is no effective method of dynamic monitoring. Gene mutation is an important factor in tumorigenesis and can be detected using high-throughput sequencing technology. This study aimed to analyze the driving genes in the tumor of NSCLC patients by whole exon sequencing, and to compare and analyze the subclones of the tumor at different time points.
We collected 87 cases of NSCLC tumor tissues, para-cancer tissues, and peripheral blood samples for detecting cell-free DNAs (cfDNAs) from January 2016 to December 2018, and whole-exome sequencing was performed. The gene mutation map of NSCLC was drawn in detail by second-generation sequencing data analysis and new driver genes were found. In addition, we performed a subclonal analysis of tumors from different stages of the same patient to further describe the tumor heterogeneity.
We found that the clonal analysis obtained by cfDNA detection was similar to the clonal analysis of the tissue samples, so real-time monitoring of tumor changes can be carried out through monitoring cfDNA.
This study provides evidence for studying the gene mutation information of NSCLC and shows the importance of cfDNA in the analysis of tumor subcloning information.
非小细胞肺癌(NSCLC)是全球癌症死亡率最高的疾病,但目前尚无有效的动态监测方法。基因突变是肿瘤发生的重要因素,可通过高通量测序技术进行检测。本研究旨在通过全外显子测序分析NSCLC患者肿瘤中的驱动基因,并比较和分析不同时间点肿瘤的亚克隆。
我们收集了87例NSCLC肿瘤组织、癌旁组织和外周血样本,用于检测游离DNA(cfDNA),时间跨度为2016年1月至2018年12月,并进行了全外显子测序。通过二代测序数据分析详细绘制NSCLC的基因突变图谱,发现新的驱动基因。此外,我们对同一患者不同阶段的肿瘤进行亚克隆分析,以进一步描述肿瘤异质性。
我们发现通过cfDNA检测获得的克隆分析结果与组织样本的克隆分析结果相似,因此可以通过监测cfDNA对肿瘤变化进行实时监测。
本研究为研究NSCLC的基因突变信息提供了证据,并显示了cfDNA在肿瘤亚克隆信息分析中的重要性。