[Hereditary leiomyomatosis syndrome associated with renal cell carcinoma. A case report]. / Síndrome de leiomiomatosis hereditaria asociado a carcinoma de células renales. Presentación de un caso.
Rev Esp Patol
; 54(3): 193-196, 2021.
Article
em Es
| MEDLINE
| ID: mdl-34175032
ABSTRACT
Hereditary leiomyomatosis (HL) is a rare autosomal dominant syndrome resulting from a mutation in the germline of the fumarate hydratase (FH) gene. Patients with this syndrome have an increased risk of cutaneous and uterine smooth muscle tumors as well as renal cancer. Renal carcinoma associated with hereditary leiomyomatosis (HLRCC) was recognized as a subtype of independent renal tumor in the 2016 WHO classification. We present a case of HLRCC occurring in a 39-year-old man with no family history or specific skin manifestations at the time of diagnosis.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
/
Neoplasias Uterinas
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Síndromes Neoplásicas Hereditárias
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Carcinoma de Células Renais
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Leiomiomatose
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Neoplasias Renais
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Humans
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Male
Idioma:
Es
Ano de publicação:
2021
Tipo de documento:
Article