associations

Last reviewed 01/2018

Associations include:

• Beckwith Wiedemann syndrome
• Bloom syndrome
• Sotos syndrome
• von Hippel-Lindau syndrome
• retinoblastoma

A genetic predisposition to Wilms' tumour is found in overlapping syndromes:

• a germline mutation is thought to be the cause of about 10%-15% of Wilms tumor.
  • WT1 germline mutations give rise to WAGR syndrome, Denys-Drash syndrome, Frasier syndrome, and isolated Wilms tumor (i.e., Wilms tumor with no evidence of an underlying syndrome).
    • WAGR syndrome - Wilms tumour-aniridia-genital anomalies-retardation

Notes (2):

• models of Wilms tumor development propose that a genetic mutation predisposes to nephrogenic rests (benign foci of embryonal kidney cells that persist abnormally into postnatal life)
  • nephrogenic rests are characterized as intralobar or perilobar
    • in general, intralobar rests (usually single lesions within the renal lobe, renal sinus, or calyceal walls)
      • associated with the WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS)
    • in general, perilobar rests (usually multiple lesions in the periphery of the renal lobe)
      • associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia
  • however, the association between type of nephrogenic rest and predisposition syndrome is not absolute

Reference:

• Bruening, W. et al. Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nature Genetics 1992;1:.144-8
• Dome JS, Huff V. Wilms Tumor Overview. Editors In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. Source GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2014.