Somatic mutations associate with clonal expansion of CD8+ T cells

Sci Adv. 2024 Jun 7;10(23):eadj0787. doi: 10.1126/sciadv.adj0787. Epub 2024 Jun 7.

Abstract

Somatic mutations in T cells can cause cancer but also have implications for immunological diseases and cell therapies. The mutation spectrum in nonmalignant T cells is unclear. Here, we examined somatic mutations in CD4+ and CD8+ T cells from 90 patients with hematological and immunological disorders and used T cell receptor (TCR) and single-cell sequencing to link mutations with T cell expansions and phenotypes. CD8+ cells had a higher mutation burden than CD4+ cells. Notably, the biggest variant allele frequency (VAF) of non-synonymous variants was higher than synonymous variants in CD8+ T cells, indicating non-random occurrence. The non-synonymous VAF in CD8+ T cells strongly correlated with the TCR frequency, but not age. We identified mutations in pathways essential for T cell function and often affected lymphoid neoplasia. Single-cell sequencing revealed cytotoxic TEMRA phenotypes of mutated T cells. Our findings suggest that somatic mutations contribute to CD8+ T cell expansions without malignant transformation.

MeSH terms

  • Adult
  • Aged
  • CD4-Positive T-Lymphocytes / immunology
  • CD4-Positive T-Lymphocytes / metabolism
  • CD8-Positive T-Lymphocytes* / immunology
  • CD8-Positive T-Lymphocytes* / metabolism
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Phenotype
  • Receptors, Antigen, T-Cell* / genetics
  • Receptors, Antigen, T-Cell* / metabolism
  • Single-Cell Analysis

Substances

  • Receptors, Antigen, T-Cell