Abstract
BAP1-deficient tumors (BDTs) are skin-colored to reddish-brown papules which are highly prevalent in BAP1 tumor predisposition syndrome and present at a younger age on average than syndrome-associated malignancies. These melanocytic neoplasms have both characteristic clinical and histologic appearances, and demonstrate loss of BAP1 on immunohistochemical staining. Associated malignancies include uveal and cutaneous melanomas, renal cell carcinoma, and mesothelioma, among others. We present a case of 2 BDTs, one with unusual clinical presentation, found within 1 year on an adolescent with a family history significant for breast cancer, nonmelanoma skin cancer, and dysplastic nevi, prompting pending genetic testing.
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