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.
Original language | English (US) |
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Pages (from-to) | 167-179 |
Number of pages | 13 |
Journal | American Journal of Dermatopathology |
Volume | 41 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1 2019 |
Keywords
- BAP1
- BRAF
- melanoma
- nevus
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Dermatology