Vulvar Pigmented Epithelioid Melanocytoma With a Novel HTT-PKN1 Fusion: A Case Report

Am J Dermatopathol. 2020 Jul;42(7):544-546. doi: 10.1097/DAD.0000000000001600.


Pigmented epithelioid melanocytoma is a highly pigmented, predominantly dermal melanocytic neoplasm composed by epithelioid and spindled melanocytes. It is characterized by a limited number of specific genomic alterations principally involving protein kinase A regulatory subunit alpha (PRKAR1A) and fusion of protein kinase C alpha isoform (PRKCA). However, in some of these neoplasms, no genetic aberrations have been detected. We performed genomic analysis of a nodular heavily pigmented intradermal proliferation composed of monomorphic epithelioid melanocytes with slight cytologic atypia consisting with pigmented epithelioid melanocytoma occurring on the vulva of a 24-year-old woman. A novel fusion transcript HTT-PKN1 and an ATM (Val410Ala) missense mutation were found. No other mutations including TERT-promoter hotspot mutation analysis were detected. The data expand the spectrum of molecular alterations in pigmented epithelioid melanocytoma.

Publication types

  • Case Reports

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins / genetics
  • Epithelioid Cells / pathology
  • Female
  • Humans
  • Huntingtin Protein / genetics
  • Melanocytes / pathology
  • Melanoma / genetics*
  • Melanoma / pathology*
  • Mutation, Missense
  • Oncogene Fusion
  • Protein Kinase C / genetics
  • Vulvar Neoplasms / genetics*
  • Vulvar Neoplasms / pathology*


  • HTT protein, human
  • Huntingtin Protein
  • protein kinase N
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Kinase C