Melanoma arising from a long-standing pigmented trichoblastoma: clinicopathologic study with complementary aCGH/mutational analysis

Am J Dermatopathol. 2014 Aug;36(8):e146-51. doi: 10.1097/DAD.0000000000000034.

Abstract

Trichoblastoma is a benign cutaneous adnexal tumor, composed mostly of follicular germinative cells. Its pigmented variant is colonized by numerous dendritic melanocytes. So far, only one case in the literature describes a combination of trichoblastoma and melanoma. We report the case of a 62-year-old man who had a slow-growing mass of the left flank present since childhood. This 8-cm mass was surgically removed when it became ulcerated and associated with axillary lymph nodes. Histologically, this tumor was strictly dermal and composed of 2 intermingled components. Large sheets of atypical, proliferating epithelioid cells predominated. Dispersed solid nests or cribriform epithelial islets encased in fibrous tissue were also seen. Some nests displayed a massive colonization by pigmented dendritic melanocytes. On immunohistochemical staining, the sheets of atypical cells expressed focally but strongly S100 protein, MelanA, HMB45, and MiTF. Epithelial structures diffusely expressed pancytokeratin AE1/AE3, KL1, and pleckstrin homology-like domain, family A, member 1. Based on these results, we diagnosed an intradermal melanoma, possibly developed from dendritic melanocytes colonizing a giant pigmented trichoblastoma. Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34G>T (G12C). Array comparative genomic hybridization displayed a complex profile somewhat divergent from standard melanoma profiles. The patient died of widespread metastatic disease 8 months after initial diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • Biopsy
  • Comparative Genomic Hybridization*
  • DNA Mutational Analysis*
  • Fatal Outcome
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Immunohistochemistry
  • Male
  • Melanins / analysis
  • Melanocytes / chemistry
  • Melanocytes / pathology
  • Melanoma / chemistry
  • Melanoma / genetics*
  • Melanoma / secondary
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation
  • Neoplasms, Adnexal and Skin Appendage / chemistry
  • Neoplasms, Adnexal and Skin Appendage / genetics*
  • Neoplasms, Adnexal and Skin Appendage / pathology
  • Neoplasms, Adnexal and Skin Appendage / surgery
  • Skin Neoplasms / chemistry
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Time Factors

Substances

  • Biomarkers, Tumor
  • Melanins
  • Membrane Proteins
  • GTP Phosphohydrolases
  • NRAS protein, human