A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3-SCAPER gene fusion

J Cutan Pathol. 2020 Jan;47(1):70-75. doi: 10.1111/cup.13566. Epub 2019 Sep 11.


Pigmented epithelioid melanocytoma (PEM) represents a group of rare, heavily pigmented melanocytic tumors encompassing lesions previously designated as "animal-type melanomas" and "epithelioid blue nevi." Despite the association of multiple such tumors in the setting of Carney complex, most cases of PEM occur spontaneously as solitary neoplasms in otherwise healthy patients. PEM may arise in both children and adults, and has a known propensity to spread to the regional lymph nodes. Despite this latter finding, recurrence at the biopsy site or spread beyond the lymph node basin is exceptionally uncommon. Although the molecular basis for PEM continues to be characterized, findings to date suggest that this category of melanocytic neoplasia has genetic alterations distinct from those seen in common nevi, dysplastic nevi, Spitz nevi, and melanoma. Herein, we present an in-depth clinical, histopathologic, and molecular analysis of a case of PEM occurring on the scalp of a young African American girl found to have a novel NTRK3-SCAPER gene fusion.

Keywords: NTRK3 fusion; dermatopathology; melanocytic lesions; melanocytic neoplasms; pigmented epithelioid melanocytoma.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins* / genetics
  • Carrier Proteins* / metabolism
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 15* / genetics
  • Chromosomes, Human, Pair 15* / metabolism
  • Chromosomes, Human, Pair 17* / genetics
  • Chromosomes, Human, Pair 17* / metabolism
  • Discoidin Domain Receptor 2* / genetics
  • Discoidin Domain Receptor 2* / metabolism
  • Female
  • Head and Neck Neoplasms* / genetics
  • Head and Neck Neoplasms* / metabolism
  • Head and Neck Neoplasms* / pathology
  • Humans
  • Nevus, Blue* / genetics
  • Nevus, Blue* / metabolism
  • Oncogene Proteins, Fusion*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology


  • Carrier Proteins
  • Oncogene Proteins, Fusion
  • SCAPER protein, human
  • DDR2 protein, human
  • Discoidin Domain Receptor 2