title: Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.
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).
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: AP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.
authors: F
authors: F
authors: Brioude
authors: A
authors: A
authors: Lacoste
authors: I
authors: I
authors: Netchine
authors: M-P
authors: MP
authors: Vazquez
authors: F
authors: F
authors: Auber
authors: G
authors: G
authors: Audry
authors: M
authors: M
authors: Gauthier-Villars
authors: L
authors: L
authors: Brugieres
authors: C
authors: C
authors: Gicquel
authors: Y
authors: Y
authors: Le Bouc
authors: S
authors: S
authors: Rossignol
mesh_terms: D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications* / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods / Q000592:standards*; D009369:Neoplasms / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D017410:Practice Guidelines as Topic; D015995:Prevalence; D012307:Risk Factors; D015398:Signal Transduction / Q000235:genetics