Harvard T.H. Chan School of Public Health, Boston.
Dana-Farber Cancer Institute, Harvard Medical School, Boston, USA.
Ann Oncol. 2024 Jun;35(6):508-522. doi: 10.1016/j.annonc.2024.03.007. Epub 2024 Mar 26.
Tumor mutational burden (TMB) is a biomarker that measures the number of somatic mutations in a tumor's genome. TMB has emerged as a predictor of response to immune checkpoint inhibitors (ICIs) in various cancer types, and several studies have shown that patients with high TMB have better outcomes when treated with programmed death-ligand 1-based therapies. Recently, the Food and Drug Administration has approved TMB as a companion diagnostic for the use of pembrolizumab in solid tumors. However, despite its potential, the use of TMB as a biomarker for immunotherapy efficacy is limited by several factors. Here we review the limitations of TMB in predicting immunotherapy outcomes in patients with cancer and discuss potential strategies to optimize its use in the clinic.
肿瘤突变负荷（TMB）是一种衡量肿瘤基因组中体细胞突变数量的生物标志物。TMB 已成为多种癌症类型中免疫检查点抑制剂（ICIs）反应的预测因子，多项研究表明，高 TMB 患者接受基于程序性死亡配体 1 的治疗时，预后更好。最近，美国食品和药物管理局已批准 TMB 作为 pembrolizumab 在实体瘤中应用的伴随诊断。然而，尽管 TMB 具有潜在的应用价值，但它作为免疫治疗疗效的生物标志物仍受到多种因素的限制。本文综述了 TMB 在预测癌症患者免疫治疗结局方面的局限性，并讨论了优化其在临床应用的潜在策略。
