Germline mutations in BAP1 predispose to melanocytic tumors View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-10

AUTHORS

Thomas Wiesner, Anna C Obenauf, Rajmohan Murali, Isabella Fried, Klaus G Griewank, Peter Ulz, Christian Windpassinger, Werner Wackernagel, Shea Loy, Ingrid Wolf, Agnes Viale, Alex E Lash, Mono Pirun, Nicholas D Socci, Arno Rütten, Gabriele Palmedo, David Abramson, Kenneth Offit, Arthur Ott, Jürgen C Becker, Lorenzo Cerroni, Heinz Kutzner, Boris C Bastian, Michael R Speicher

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. More... »

PAGES

1018

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.910

DOI

http://dx.doi.org/10.1038/ng.910

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1043671664

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21874003


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