Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma.
Fam Cancer
; 11(3): 535-7, 2012 Sep.
Article
em En
| MEDLINE
| ID: mdl-22717761
ABSTRACT
Hereditary papillary renal carcinoma (HPRC) is a highly penetrant hereditary renal cancer syndrome caused by germline missense mutations in the c-MET proto-oncogene. HPRC is clinically characterized by multiple bilateral papillary renal-cell carcinomas. Here we report a family with a novel missense mutation in c-MET. The original pathology report of four primary kidney cancers (1988-1997) revealed renal-cell carcinoma. A revised report described multiple adenomas and papillary renal-cell carcinomas with focal clear cells and a mixture of type 1 and type 2 pattern, emphasizing the importance of revised pathology examinations in possible hereditary renal-cell carcinomas especially when described before 1997.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Carcinoma de Células Renais
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Mutação em Linhagem Germinativa
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Proteínas Proto-Oncogênicas c-met
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Neoplasias Renais
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article