Clinical and technical insights of tumour mutational burden in non-small cell lung cancer

Crit Rev Oncol Hematol. 2023 Feb:182:103891. doi: 10.1016/j.critrevonc.2022.103891. Epub 2022 Dec 21.

Abstract

Despite the durable responses provided by the introduction of checkpoint inhibitors in advanced Non-Small Cell Lung Cancer (NSCLC) without actionable targets in a subset of patients, a large proportion of them will progress after immunotherapy. Programmed Death Ligand 1 (PD-L1) was the first biomarker approved for immunotherapy, although it has multiple limitations, thus the development of novel biomarkers is an urgent need. Tumour Mutational Burden (TMB) is an emerging biomarker defined as the total number of mutations per coding area of tumour genome. Targeted gene panels have emerged as a cost-effective approach to estimate TMB. However, there is still an unmet need to fully standardize sample requirements, panel size, and bioinformatic pipelines to ensure that TMB is calculated appropriately. In addition, researchers are also evaluating TMB calculation in liquid biopsy. In this work, we summarize the relevant advances and the clinical utility of TMB in NSCLC.

Keywords: Biomarker; Immunotherapy; NGS; NSCLC; TMB.

Publication types

  • Review

MeSH terms

  • B7-H1 Antigen / genetics
  • Biomarkers, Tumor / genetics
  • Carcinoma, Non-Small-Cell Lung* / diagnosis
  • Carcinoma, Non-Small-Cell Lung* / genetics
  • Carcinoma, Non-Small-Cell Lung* / therapy
  • Humans
  • Immunotherapy
  • Lung Neoplasms* / drug therapy
  • Lung Neoplasms* / therapy
  • Mutation

Substances

  • Biomarkers, Tumor
  • B7-H1 Antigen