Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion and prominent epidermal involvement: A case report

J Cutan Pathol. 2022 Dec;49(12):1025-1030. doi: 10.1111/cup.14287. Epub 2022 Aug 4.

Abstract

Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMCT) is a recently described entity with only 13 cases reported in the literature. Histopathologically, the neoplasm consists of atypical epithelioid to spindled cells that form a well-circumscribed nodule usually confined to the dermis and subcutis with cytological features including large vesicular nuclei with prominent nucleoli and abundant eosinophilic cytoplasm. Immunohistochemistry shows variable expressivity of melanocytic markers. Currently, there are limited data regarding long-term outcomes of this newly described entity. Most cases have done well, but there is one case reported with an adverse event. Hence, further studies are needed to accurately classify this tumor. Definitive diagnosis is made by laboratory evidence of CMCT. Herein, we report the first case of CMCT with epidermal involvement in the youngest patient known to be affected to date.

Keywords: CRTC1; TRIM11; case report; clear cell sarcoma; melanocytoma.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor
  • Gene Fusion
  • Humans
  • Melanocytes / pathology
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology
  • Transcription Factors / genetics
  • Tripartite Motif Proteins / genetics
  • Ubiquitin-Protein Ligases / genetics

Substances

  • 1-cyclohexyl-3-(2-(4-morpholinyl)ethyl)carbodiimide
  • Transcription Factors
  • Biomarkers, Tumor
  • CRTC1 protein, human
  • TRIM11 protein, human
  • Tripartite Motif Proteins
  • Ubiquitin-Protein Ligases