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Am J Dermatopathol. 2019 Mar;41(3):167-179. doi: 10.1097/DAD.0000000000001217.

Melanoma With Loss of BAP1 Expression in Patients With No Family History of BAP1-Associated Cancer Susceptibility Syndrome: A Case Series.

Author information

1
Assistant Professor, Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
2
Associate Professor, Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
3
Associate Professor, Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX.
4
Assistant Professor, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
5
Molecular Biologist, Laboratory of Pathology, National Cancer Institute, Bethesda, MD.
6
Staff Scientist, Laboratory of Pathology, National Cancer Institute, Bethesda, MD.
7
Professor, Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
8
Professor, Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX.
9
Associate Professor, Dermatopathology Section, Departments of Pathology and Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX.

Abstract

The presence of multiple BAP1-negative melanocytic neoplasms is a hallmark of familial cancer susceptibility syndrome caused by germline mutations in BAP1. Melanocytic tumors lacking BAP1 expression may also present as sporadic lesions in patients lacking a germline BAP1 mutation. Here, we report histomorphologic and clinical characteristics of cutaneous melanomas with loss of BAP1 expression in 4 patients with no known history of BAP1-associated cancer susceptibility syndrome. The lesions were nodular melanomas composed predominantly of intradermal large epithelioid (Spitzoid) melanocytes with nuclear pseudoinclusions as well as scattered multinucleated cells, arising in association with a typical intradermal nevus. Of the 4 patients, only 1 had recurrence. This patient had multiple recurrences with in-transit and regional lymph node metastases. To the best of our knowledge, this is the first reported series of cutaneous melanomas with loss of BAP1 expression arising in patients without a family history of cancer.

PMID:
30801340
DOI:
10.1097/DAD.0000000000001217
[Indexed for MEDLINE]

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