Open AccessMelanoma With Loss of BAP1 Expression in Patients With No Family History of BAP1-Associated Cancer Susceptibility Syndrome: A Case Series
Author(s) -
Phyu P. Aung,
Priyadharsini Nagarajan,
Michael T. Tetzlaff,
Jonathan L. Curry,
Guilin Tang,
Zied Abdullaev,
Svetlana Pack,
Doina Ivan,
Víctor G. Prieto,
Carlos A. TorresCabala
Publication year - 2019
Publication title -
the american journal of dermatopathology/american journal of dermatopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.454
H-Index - 73
eISSN - 1533-0311
pISSN - 0193-1091
DOI - 10.1097/dad.0000000000001217
Subject(s) - bap1 , medicine , melanoma , family history , germline mutation , cancer syndrome , cancer , germline , dermatology , pathology , cancer research , mutation , biology , gene , biochemistry
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.