Somatic mTOR mutation in clonally expanded T lymphocytes associated with chronic graft versus host disease

Nat Commun. 2020 May 7;11(1):2246. doi: 10.1038/s41467-020-16115-w.

Abstract

Graft versus host disease (GvHD) is the main complication of allogeneic hematopoietic stem cell transplantation (HSCT). Here we report studies of a patient with chronic GvHD (cGvHD) carrying persistent CD4+ T cell clonal expansion harboring somatic mTOR, NFKB2, and TLR2 mutations. In the screening cohort (n = 134), we detect the mTOR P2229R kinase domain mutation in two additional cGvHD patients, but not in healthy or HSCT patients without cGvHD. Functional analyses of the mTOR mutation indicate a gain-of-function alteration and activation of both mTORC1 and mTORC2 signaling pathways, leading to increased cell proliferation and decreased apoptosis. Single-cell RNA sequencing and real-time impedance measurements support increased cytotoxicity of mutated CD4+ T cells. High throughput drug-sensitivity testing suggests that mutations induce resistance to mTOR inhibitors, but increase sensitivity for HSP90 inhibitors. Our findings imply that somatic mutations may contribute to aberrant T cell proliferations and persistent immune activation in cGvHD, thereby paving the way for targeted therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Cell Proliferation / genetics
  • Cell Proliferation / physiology
  • Graft vs Host Disease / genetics*
  • HEK293 Cells
  • Humans
  • Immunity, Cellular / genetics
  • Immunity, Cellular / physiology
  • Immunoprecipitation
  • Mutation / genetics
  • Protein Binding / genetics
  • Protein Binding / physiology
  • T-Lymphocytes / metabolism*
  • TOR Serine-Threonine Kinases / genetics*

Substances

  • MTOR protein, human
  • TOR Serine-Threonine Kinases