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  • Title: Melanoma With Loss of BAP1 Expression in Patients With No Family History of BAP1-Associated Cancer Susceptibility Syndrome: A Case Series.
    Author: Aung PP, Nagarajan P, Tetzlaff MT, Curry JL, Tang G, Abdullaev Z, Pack SD, Ivan D, Prieto VG, Torres-Cabala CA.
    Journal: Am J Dermatopathol; 2019 Mar; 41(3):167-179. PubMed ID: 30801340.
    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.
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