An atypical presentation of renal mass associated with BAP-1 tumor predisposition syndrome: Case report and review of literature.
Urol Case Rep
; 54: 102700, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38827530
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Urol Case Rep
Ano de publicação:
2024
Tipo de documento:
Article