Patient HLA class I genotype influences cancer response to checkpoint blockade immunotherapy

Science. 2018 Feb 2;359(6375):582-587. doi: 10.1126/science.aao4572. Epub 2017 Dec 7.

Abstract

CD8+ T cell-dependent killing of cancer cells requires efficient presentation of tumor antigens by human leukocyte antigen class I (HLA-I) molecules. However, the extent to which patient-specific HLA-I genotype influences response to anti-programmed cell death protein 1 or anti-cytotoxic T lymphocyte-associated protein 4 is currently unknown. We determined the HLA-I genotype of 1535 advanced cancer patients treated with immune checkpoint blockade (ICB). Maximal heterozygosity at HLA-I loci ("A," "B," and "C") improved overall survival after ICB compared with patients who were homozygous for at least one HLA locus. In two independent melanoma cohorts, patients with the HLA-B44 supertype had extended survival, whereas the HLA-B62 supertype (including HLA-B*15:01) or somatic loss of heterozygosity at HLA-I was associated with poor outcome. Molecular dynamics simulations of HLA-B*15:01 revealed different elements that may impair CD8+ T cell recognition of neoantigens. Our results have important implications for predicting response to ICB and for the design of neoantigen-based therapeutic vaccines.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Antigen Presentation
  • Antigens, Neoplasm / immunology
  • CD8-Positive T-Lymphocytes / immunology
  • CTLA-4 Antigen / antagonists & inhibitors*
  • Cancer Vaccines / immunology
  • Cancer Vaccines / therapeutic use
  • Cohort Studies
  • Genetic Carrier Screening
  • Histocompatibility Antigens Class I / chemistry
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Immunotherapy / methods*
  • Melanoma / genetics
  • Melanoma / immunology*
  • Melanoma / mortality
  • Melanoma / therapy*
  • Middle Aged
  • Programmed Cell Death 1 Receptor / antagonists & inhibitors*
  • Protein Conformation
  • Skin Neoplasms / genetics
  • Skin Neoplasms / immunology*
  • Skin Neoplasms / mortality
  • Skin Neoplasms / therapy*
  • Treatment Outcome
  • Young Adult

Substances

  • Antigens, Neoplasm
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Cancer Vaccines
  • Histocompatibility Antigens Class I
  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor