Germline mutations in BAP1 predispose to melanocytic tumors Academic Article uri icon

Overview

MeSH Major

  • Germ-Line Mutation
  • Nevus, Pigmented
  • Skin Neoplasms
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase

abstract

  • Common acquired melanocytic nevi are benign neoplasms that are composed of small, uniform melanocytes and are typically present as flat or slightly elevated pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple, skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected individuals developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histological similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm.

publication date

  • October 2011

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC3328403

Digital Object Identifier (DOI)

  • 10.1038/ng.910

PubMed ID

  • 21874003

Additional Document Info

start page

  • 1018

end page

  • 21

volume

  • 43

number

  • 10