Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor.
Genes Chromosomes Cancer
; 28(1): 31-7, 2000 May.
Article
em En
| MEDLINE
| ID: mdl-10738300
ABSTRACT
We describe a four-month-old child who presented with an atypical teratoid/rhabdoid tumor of the brain and subsequently developed a renal rhabdoid tumor. Distinct histologic features, immunophenotypic profiles, and deletions of chromosome 22 were supportive of two primary tumors. An identical mutation in exon 7 of the INI1 rhabdoid tumor suppressor gene was identified in both tumors, as well as in normal kidney tissue. We propose that this germline INI1 mutation predisposed the child to the development of both malignancies. These findings lend support to the hypothesis that rhabdoid tumors in all sites have a common genetic etiology.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Teratoma
/
Neoplasias do Sistema Nervoso Central
/
Tumor Rabdoide
/
Mutação em Linhagem Germinativa
/
Proteínas de Ligação a DNA
/
Neoplasias Renais
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Genes Chromosomes Cancer
Assunto da revista:
BIOLOGIA MOLECULAR
/
NEOPLASIAS
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Estados Unidos