Publication in Journal of Cutaneous Pathology

J Cutan Pathol. 2019 Aug 22. doi: 10.1111/cup.13566. [Epub ahead of print]

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

Friedman BJ1,2, Hernandez S3, Fidai C1, Jiang A1, Shwayder TA1, Carskadon S4, Andea AA5,6, Harms PW5,6, Chitale D2, Palanisamy N4.

Author information

1

Department of Dermatology, Henry Ford Health System, Detroit, Michigan.

2

Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, Michigan.

3

College of Medicine, State University of New York Upstate Medical University, 766 Irving Ave, Syracuse, New York.

4

Department of Urology, Vattikuti Urology Institute, Henry Ford Health System, Detroit, Michigan.

5

Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.

6

Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.

Abstract

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 lesions 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. This article is protected by copyright. All rights reserved.

This article is protected by copyright. All rights reserved.

PMID:

 

31437301

 

DOI:

 

10.1111/cup.13566