Single-cell dissection of Merkel cell carcinoma heterogeneity unveils transcriptomic plasticity and therapeutic vulnerabilities

Cell Rep Med. 2023 Jul 18;4(7):101101. doi: 10.1016/j.xcrm.2023.101101. Epub 2023 Jul 7.

Abstract

Merkel cell carcinoma (MCC), a rare but aggressive skin cancer, remains a challenge in the era of precision medicine. Immune checkpoint inhibitors (ICIs), the only approved therapy for advanced MCC, are impeded by high primary and acquired resistance. Hence, we dissect transcriptomic heterogeneity at single-cell resolution in a panel of patient tumors, revealing phenotypic plasticity in a subset of treatment-naive MCC. The tumor cells in a "mesenchymal-like" state are endowed with an inflamed phenotype that portends a better ICI response. This observation is also validated in the largest whole transcriptomic dataset available from MCC patient tumors. In contrast, ICI-resistant tumors predominantly express neuroepithelial markers in a well-differentiated state with "immune-cold" landscape. Importantly, a subtle shift to "mesenchymal-like" state reverts copanlisib resistance in primary MCC cells, highlighting potential strategies in patient stratification for therapeutics to harness tumor cell plasticity, augment treatment efficacy, and avert resistance.

Keywords: Merkel cell carcinoma; cellular plasticity; copanlisib; epigenetics; immunotherapy resistance; neuroendocrine carcinoma; single cell RNA-seq; skin cancer; tumor cell state; tumor heterogeneity.

Publication types

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

MeSH terms

  • Carcinoma, Merkel Cell* / drug therapy
  • Carcinoma, Merkel Cell* / genetics
  • Carcinoma, Merkel Cell* / pathology
  • Gene Expression Profiling
  • Humans
  • Immunotherapy
  • Skin Neoplasms* / drug therapy
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology
  • Transcriptome / genetics