Zhang Jiali, Dong Aoran, Li Shuzhan, Ren Xiubao, Zhang Xinwei
Department of Biotherapy, Cancer Institute and Hospital, Tianjin Medical University, Tianjin, China.
National Clinical Research Center for Cancer, Tianjin, China.
J Thorac Dis. 2020 Dec;12(12):7290-7297. doi: 10.21037/jtd-20-3162.
To clarify the rate of concordance between the results of concurrent sequencing of circulating tumor DNA (ctDNA) and tumor tissue samples based in clinic settings, and to explore potential factors influencing consistency.
A retrospective analysis of 27 patients with lung cancer who underwent gene sequencing at the Department of Biotherapy of Tianjin Medical University Cancer Hospital from February 2016 to April 2019, was conducted by synchronous sequencing of tumor and plasma DNA samples and the concordance of mutations in nine known driver genes was calculated.
The overall concordance, sensitivity, and specificity for sequencing driver genes in plasma samples, were 85.2%, 87.0%, and 75%, respectively, relative to tumor samples. Concordance was 100% in patients with bone metastases, while the rate in those without bone metastases was 69.2%. Moreover, in patients where both the driver gene and mutations in plasma were detected, the findings of plasma sequencing of the driver gene were identical to those of tumor sequencing (concordance: 100%).
Overall, our data show that circulating tumor DNA (ctDNA) was able to identify 75% of the identical information in driver genes, with higher rates of concordance in lung cancer patients with bone metastases or mutation-positive plasma samples.
为明确临床环境下循环肿瘤DNA（ctDNA）与肿瘤组织样本同步测序结果的一致性率，并探索影响一致性的潜在因素。
对2016年2月至2019年4月在天津医科大学肿瘤医院生物治疗科接受基因测序的27例肺癌患者进行回顾性分析，对肿瘤和血浆DNA样本进行同步测序，并计算9个已知驱动基因中突变的一致性。
相对于肿瘤样本，血浆样本中驱动基因测序的总体一致性、敏感性和特异性分别为85.2%、87.0%和75%。骨转移患者的一致性为100%，无骨转移患者的一致性率为69.2%。此外，在检测到驱动基因和血浆中存在突变的患者中，驱动基因的血浆测序结果与肿瘤测序结果相同（一致性：100%）。
总体而言，我们的数据表明，循环肿瘤DNA（ctDNA）能够识别驱动基因中75%的相同信息，在有骨转移的肺癌患者或血浆样本突变阳性的患者中一致性率更高。
