Tissue-specific thresholds of mutation burden associated with anti-PD-1/L1 therapy benefit and prognosis in microsatellite-stable cancers

Nat Cancer. 2024 Jul;5(7):1121-1129. doi: 10.1038/s43018-024-00752-x. Epub 2024 Mar 25.

Abstract

Immune checkpoint inhibitors (ICIs) targeting programmed cell death protein 1 or its ligand (PD-1/L1) have expanded the treatment landscape against cancers but are effective in only a subset of patients. Tumor mutation burden (TMB) is postulated to be a generic determinant of ICI-dependent tumor rejection. Here we describe the association between TMB and survival outcomes among microsatellite-stable cancers in a real-world clinicogenomic cohort consisting of 70,698 patients distributed across 27 histologies. TMB was associated with survival benefit or detriment depending on tissue and treatment context, with eight cancer types demonstrating a specific association between TMB and improved outcomes upon treatment with anti-PD-1/L1 therapies. Survival benefits were noted over a broad range of TMB cutoffs across cancer types, and a dose-dependent relationship between TMB and outcomes was observed in a subset of cancers. These results have implications for the use of cancer-agnostic and universal TMB cutoffs to guide the use of anti-PD-1/L1 therapies, and they underline the importance of tissue context in the development of ICI biomarkers.

MeSH terms

  • B7-H1 Antigen* / antagonists & inhibitors
  • B7-H1 Antigen* / genetics
  • Biomarkers, Tumor* / genetics
  • Female
  • Humans
  • Immune Checkpoint Inhibitors* / therapeutic use
  • Male
  • Microsatellite Instability
  • Microsatellite Repeats
  • Mutation*
  • Neoplasms* / drug therapy
  • Neoplasms* / genetics
  • Neoplasms* / immunology
  • Prognosis
  • Programmed Cell Death 1 Receptor* / antagonists & inhibitors

Substances

  • Immune Checkpoint Inhibitors
  • B7-H1 Antigen
  • Programmed Cell Death 1 Receptor
  • Biomarkers, Tumor
  • CD274 protein, human
  • PDCD1 protein, human