Conventional renal cancer in a patient with fumarate hydratase mutation.
Hum Pathol
; 38(5): 793-6, 2007 May.
Article
em En
| MEDLINE
| ID: mdl-17270241
ABSTRACT
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leiomyomas, renal cell cancer, and uterine leiomyosarcoma. Typically, renal cell cancers in HLRCC are unilateral and display a papillary type 2 or ductal histology. We describe here a 23-year-old patient carrying a novel FH mutation (N330S) with a bilateral renal cell center. Carcinoma of the right kidney showed papillary structure, but the left tumor was diagnosed as a conventional (clear cell) renal carcinoma, a type not previously described in HLRCC. The clear cell renal carcinoma also displayed loss of the normal FH allele and the FH immunostaining. Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful tool to screen for HLRCC in young individuals with clear cell renal carcinoma.
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Coleções:
01-internacional
Temas:
Geral
/
Saude_da_mulher
/
Colo_do_utero
/
Tipos_de_cancer
/
Colo_do_utero
/
Outros_tipos
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Uterinas
/
Carcinoma de Células Renais
/
Fumarato Hidratase
/
Neoplasias Renais
/
Mutação
/
Neoplasias Primárias Múltiplas
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Hum Pathol
Assunto da revista:
PATOLOGIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Finlândia