ArticleUrology case reports2024
An atypical presentation of renal mass associated with BAP-1 tumor predisposition syndrome: Case report and review of literature.
Article in Urology case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
BCRA-associated protein-1 (BAP-1) mutation has been associated with the development of a familiar syndrome that predisposes to tumors with a higher incidence than in general population, including melanoma and renal carcinoma. We report a 47-year-old woman diagnosed with a BAPoma (melanocytic tumor characterized by the loss of BAP-1). Due to her extensive family history with multiple neoplasms, a FDG PET-CT was performed. Consequently, she was diagnosed with an atypical renal mass, which is rarely linked to this syndrome. We review and discuss the available literature on the screening, diagnosis and treatment of renal tumors associated with BAP-1 tumor predisposition syndrome.
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