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J Pediatr Gastroenterol Nutr ; 47(5): 675-7, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18955873

RESUMEN

Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at a median age of 22 months (range 6-119 months). No germline APC mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.


Asunto(s)
Poliposis Adenomatosa del Colon/genética , Genes APC , Mutación de Línea Germinal/genética , Hepatoblastoma/genética , Neoplasias Hepáticas/genética , Polimorfismo de Nucleótido Simple , Poliposis Adenomatosa del Colon/epidemiología , Secuencia de Bases , Niño , Preescolar , Cartilla de ADN , Femenino , Humanos , Lactante , Masculino , Prevalencia , Estudios Retrospectivos
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