基于血液肿瘤突变负荷检测的现状与挑战

Blood-based tumor mutational burden testing:current research and challenges

基于血液的肿瘤突变负荷检测(bTMB)是指通过二代测序技术分析循环肿瘤DNA中的突变数量,被认为是一种无创的免疫治疗标志物。bTMB与肿瘤免疫治疗的客观缓解率相关,但在长期预后获益中的预测价值有限。bTMB检测受到循环肿瘤DNA突变丰度、肿瘤异质性等多种因素的影响,校正干扰因素后的bTMB改进算法能更好地预测免疫治疗的长期生存获益。bTMB在临床应用过程中仍需克服方法学、经济学以及标准化层面的挑战。

Blood-based tumor mutational burden(bTMB)calculated based on next-generation sequencing(NGS)to examine the circulating tumor DNA(ctDNA)is often considered as a non-invasive biomarker-candidate predicting the clinical benefit of patients who received immunotherapy.Some recent evidence indicates that the alteration of bTMB related characters is often associated with objective response rates of patients to cancer immunotherapy,but has limited predictive value in long-term prognostic benefit.The predictive efficacy of bTMB is affected by many factors such as the abundance of circulating tumor DNA and tumor heterogeneity,and adjusted bTMB examination after correcting for interfering factors can better predict the long-term survival benefit of immunotherapy.Application of bTMB testing still needs to overcome methodological,economic,and standardization challenges during clinical application.