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

VernacularTitle:基于血液肿瘤突变负荷检测的现状与挑战
Author: Huiqin JIANG ¹ ; Wei GUO
Author Information

1. 复旦大学附属中山医院检验科，上海200032
Keywords: DNA, neoplasm; Tumor mutation burden; Next-generation sequencing
From: Chinese Journal of Laboratory Medicine 2023;46(9):883-887
CountryChina
Language:Chinese
Abstract: 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.