title: Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group.
abstract: OBJECTIVE
  Children with the rare Wilms tumor (WT)-aniridia (WAGR) syndrome have not had systematic evaluation of their clinical and pathologic features. We compared demographics, disease characteristics, and treatment outcomes in a large cohort of WT patients who did or did not have the WAGR syndrome.
  
  
  METHODS
  Clinical and pathology records were reviewed for 8,533 patients enrolled between 1969 and 2002 by the National Wilms Tumor Study Group.
  
  
  RESULTS
  Sixty-four patients (0.75%) had the WAGR syndrome. For WAGR and non-WAGR patients, respectively, the average birth weights (2.94 and 3.45 kg), median ages at diagnosis (22 and 39 months), and the percentages with bilateral disease (17% and 6%), metastatic disease (2% and 13%), favorable histology (FH) tumors (100% and 92%), and intralobar nephrogenic rests (ILNR; 77% and 22%) all differed. Survival estimates for WAGR and non-WAGR patients were 95% +/- 3% and 92% +/- 0.3% at 4 years but 48% +/- 17% and 86% +/- 1.0%, respectively, at 27 years from diagnosis. Five late deaths in WAGR patients were from end-stage renal disease (ESRD).
  
  
  CONCLUSIONS
  The excess of bilateral disease, ILNR-associated FH tumors of mixed cell type, and early ages at diagnosis in WAGR patients all fit the known phenotypic spectrum of constitutional deletion of chromosome 11p13. Despite a favorable response of their WT to treatment, WAGR patients have a high risk of ESRD as they approach adulthood. The renal pathology associated with this apparent late manifestation of WT1 deletion, and the explanation for the abnormally low birth weights in patients with del 11p13, have yet to be determined.
authors.affiliation: Department of Biostatistics, Box 357232, University of Washington, Seattle, WA 98195-7232, USA. norm@u.washington.edu
authors.forename: Norman E
authors.initials: NE
authors.lastname: Breslow
authors.forename: Robin
authors.initials: R
authors.lastname: Norris
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Norkool
authors.forename: Tammy
authors.initials: T
authors.lastname: Kang
authors.forename: J Bruce
authors.initials: JB
authors.lastname: Beckwith
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Perlman
authors.forename: Michael L
authors.initials: ML
authors.lastname: Ritchey
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Green
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
mesh_terms: D017677:Age Distribution; D000704:Analysis of Variance; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016016:Proportional Hazards Models; D012189:Retrospective Studies; D016019:Survival Analysis; D016896:Treatment Outcome; D017624:WAGR Syndrome / Q000401:mortality / Q000473:pathology* / Q000628:therapy