The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome.
Am J Med Genet A
; 179(7): 1357-1361, 2019 07.
Article
em En
| MEDLINE
| ID: mdl-31066180
ABSTRACT
DNMT3A codes for a DNA methyl transferase enzyme that plays a central role embryogenesis. Somatic mutations in this gene have been associated with tumorigenesis and are associated with a number of cancers. The recently described Tatton-Brown-Rahman syndrome (TBRS) is due to heterozygous germline mutations in the DNMT3A gene. So far, only one case of hematological malignancy associated with TBRS have been reported. Here, we describe the first case presenting with TBRS and medulloblastoma. We also discuss the associations between mutations in DNMT3A found in TBRS, AML, and medulloblastoma.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cerebelares
/
Meduloblastoma
/
Deficiência Intelectual
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
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Female
/
Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Irlanda