Ambiguous Melanocytic Tumors with Loss of 3p21

Overview

Journal Am J Surg Pathol

Date 2014 Apr 8

PMID 24705312

Citations 27

Authors

Iwei Yeh

Thaddeus W Mully

Thomas Wiesner

Swapna S Vemula

Sonia A Mirza

Alyssa J Sparatta

Timothy H McCalmont

Boris C Bastian

Philip E LeBoit

Affiliations

Soon will be listed here.

Abstract

Germline loss-of-function mutations in BAP1 are associated with the development of cutaneous melanocytic tumors with some histopathologic characteristics seen in Spitz nevi. Similar melanocytic tumors occurring in a sporadic setting have been demonstrated to have biallelic loss of BAP1. In some of these sporadic tumors, loss of BAP1 occurs through mutation of 1 allele and genomic loss of the other. We screened our database of comparative genomic hybridization profiles of ambiguous melanocytic tumors to identify cases with a single genomic event involving loss of the BAP1 locus. The prevalence of tumors with a single genomic event involving loss of BAP1 was 6.7% in our study population. We further characterized the BAP1 status in 17 of these tumors with available additional material, confirming loss of BAP1 in all cases. We describe BAP1 loss in a blue nevus-like melanoma and further expand the histopathologic spectrum of spitzoid melanocytic neoplasms with BAP1 loss.

Citing Articles

Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors.

Zaremba A, Jansen P, Murali R, Mayakonda A, Riedel A, Philip M Int J Cancer. 2022; 151(9):1542-1554.

PMID: 35737508 PMC: 9474633. DOI: 10.1002/ijc.34187.

Gene Expression and Mutational Profile in BAP-1 Inactivated Melanocytic Lesions of Progressive Malignancy from a Patient with Multiple Lesions.

Zhou Y, Nelson A, He Y, Munro S, Song K, Domingo-Musibay E Genes (Basel). 2022; 13(1).

PMID: 35052351 PMC: 8774463. DOI: 10.3390/genes13010010.

Novel insights into the BAP1-inactivated melanocytic tumor.

Donati M, Martinek P, Steiner P, Grossmann P, Vanecek T, Kastnerova L Mod Pathol. 2021; 35(5):664-675.

PMID: 34857909 DOI: 10.1038/s41379-021-00976-7.

Melanoma pathology: new approaches and classification.

Yeh I, Bastian B Br J Dermatol. 2021; 185(2):282-293.

PMID: 34060071 PMC: 9292921. DOI: 10.1111/bjd.20427.

Genome-wide copy number variations as molecular diagnostic tool for cutaneous intermediate melanocytic lesions: a systematic review and individual patient data meta-analysis.

Ebbelaar C, Jansen A, Bloem L, Blokx W Virchows Arch. 2021; 479(4):773-783.

PMID: 33851238 PMC: 8516778. DOI: 10.1007/s00428-021-03095-5.

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