Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome.
Pediatr Blood Cancer
; 53(7): 1349-51, 2009 Dec 15.
Article
en En
| MEDLINE
| ID: mdl-19653292
ABSTRACT
Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due to Wilms tumor 1(WT1) mutation in the donor splice site of intron-9, resulting in the splice form +KTS. Germ cell tumors and gonadoblastomas have been reported previously in Frasier syndrome. We present the clinical, radiological, and genetic (WT1 mutation analysis) of a 46 XY phenotypic female with Frasier syndrome with bilateral gonadoblastoma with dysgerminoma who developed pilocytic astrocytoma.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Astrocitoma
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Síndromes Neoplásicos Hereditarios
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Genes del Tumor de Wilms
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Mutación Puntual
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Gonadoblastoma
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Sitios de Empalme de ARN
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Disgerminoma
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Síndrome de Frasier
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Neoplasias Hipotalámicas
Tipo de estudio:
Etiology_studies
Límite:
Child
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Female
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Humans
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Male
Idioma:
En
Año:
2009
Tipo del documento:
Article