Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma

J Clin Invest. 2022 Jul 1;132(13):e151666. doi: 10.1172/JCI151666.

Abstract

Cancers avoid immune surveillance through an array of mechanisms, including perturbation of HLA class I antigen presentation. Merkel cell carcinoma (MCC) is an aggressive, HLA-I-low, neuroendocrine carcinoma of the skin often caused by the Merkel cell polyomavirus (MCPyV). Through the characterization of 11 newly generated MCC patient-derived cell lines, we identified transcriptional suppression of several class I antigen presentation genes. To systematically identify regulators of HLA-I loss in MCC, we performed parallel, genome-scale, gain- and loss-of-function screens in a patient-derived MCPyV-positive cell line and identified MYCL and the non-canonical Polycomb repressive complex 1.1 (PRC1.1) as HLA-I repressors. We observed physical interaction of MYCL with the MCPyV small T viral antigen, supporting a mechanism of virally mediated HLA-I suppression. We further identify the PRC1.1 component USP7 as a pharmacologic target to restore HLA-I expression in MCC.

Keywords: MHC class 1; Oncology; Proteomics; Skin cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Viral, Tumor / genetics
  • Antigens, Viral, Tumor / metabolism
  • Carcinoma, Merkel Cell* / genetics
  • Carcinoma, Merkel Cell* / pathology
  • Epigenesis, Genetic
  • Humans
  • Merkel cell polyomavirus* / genetics
  • Merkel cell polyomavirus* / metabolism
  • Polyomavirus Infections* / genetics
  • Skin Neoplasms* / pathology
  • Ubiquitin-Specific Peptidase 7 / metabolism

Substances

  • Antigens, Viral, Tumor
  • USP7 protein, human
  • Ubiquitin-Specific Peptidase 7