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

Authors:
Phyu P Aung
Phyu P Aung
Boston University School of Medicine
United States
Dr.  Priyadharsini Nagarajan, MD PhD
Dr. Priyadharsini Nagarajan, MD PhD
MD Anderson Cancer Center
Assistant Professor
Pathology, Dermatopathology
Houston, TX | United States
Michael T Tetzlaff
Michael T Tetzlaff
The University of Texas MD Anderson Cancer Center
United States
Jonathan L Curry
Jonathan L Curry
The University of Texas MD Anderson Cancer Center
United States
Guilin Tang
Guilin Tang
The University of Texas MD Anderson Cancer Center
Zied Abdullaev
Zied Abdullaev
Laboratory of Pathology
Svetlana D Pack
Svetlana D Pack
National Institutes of Health
United States
Doina Ivan
Doina Ivan
The University of Texas MD Anderson Cancer Center
United States

Am J Dermatopathol 2019 Mar;41(3):167-179

Associate Professor, Dermatopathology Section, Departments of Pathology and Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX.

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.

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http://dx.doi.org/10.1097/DAD.0000000000001217DOI Listing

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March 2019
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