Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.
Horm Res Paediatr
; 80(6): 457-65, 2013.
Article
em En
| MEDLINE
| ID: mdl-24335096
ABSTRACT
BACKGROUND:
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with an increased risk of pediatric tumors. The underlying molecular abnormalities may be genetic (CDKN1C mutations or 11p15 paternal uniparental isodisomy, pUPD) or epigenetic (imprinting center region 1, ICR1, gain of methylation, ICR1 GOM, or ICR2 loss of methylation, ICR2 LOM).AIM:
We aimed to describe a cohort of 407 BWS patients with molecular defects of the 11p15 domain followed prospectively after molecular diagnosis.RESULTS:
Birth weight and length were significantly higher in patients with ICR1 GOM than in the other groups. ICR2 LOM and CDKN1C mutations were associated with a higher prevalence of exomphalos. Mean adult height (regardless of molecular subtype, n = 35) was 1.8 ± 1.2 SDS, with 18 patients having a final height above +2 SDS. The prevalence of tumors was 8.6% in the whole population; 28.6 and 17.3% of the patients with ICR1 GOM (all Wilms tumors) and 11p15 pUPD, respectively, developed a tumor during infancy. Conversely, the prevalence of tumors in patients with ICR2 LOM and CDKN1C mutations were 3.1 and 8.8%, respectively, with no Wilms tumors.CONCLUSION:
Based on these results for a large cohort, we formulated guidelines for the follow-up of these patients according to the molecular subtype of BWS.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Beckwith-Wiedemann
/
Transformação Celular Neoplásica
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Desenvolvimento Infantil
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Monitorização Fisiológica
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Neoplasias
Tipo de estudo:
Etiology_studies
/
Guideline
/
Incidence_studies
/
Observational_studies
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Prevalence_studies
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Risk_factors_studies
/
Screening_studies
Limite:
Adult
/
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
/
Newborn
Idioma:
En
Revista:
Horm Res Paediatr
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
França