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Abstract #10434 Published in IGR 6-1
Characteristics and outcomes of children with the Wilms tumor-aniridia syndrome: a report from the National Wilms Tumor Study Group
Breslow NE; Norris R; Norkool PA; Kang T; Beckwith JB; Perlman EJ; Ritchey ML; Green DM; Nichols KEJournal of Clinical Oncology 2003; 21: 4579-4585
PURPOSE: Children with the rare Wilms tumor (WT)-aniridia (WAGR) syndrome have not had systematic evaluation of their clinical and pathological features. The authors compared demographics, disease characteristics, and treatment outcomes in a large cohort of WT patients who did or did not have WAGR syndrome. PATIENTS AND METHODS: Clinical and pathology records were reviewed in 8533 patients enrolled between 1969 and 2002 by the National Wilms Tumor Study Group. RESULTS: Sixty-four patients (0.75%) had 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 9% ± 0.3% at four 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.
Dr. N.E. Breslow, Department of Biostatistics, Box 357232, University of Washington, Seattle, WA 98195-7232, USA. norm@u.washington.edu
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
