Characteristics and Outcomes of Children With the Wilms Tumor-Aniridia Syndrome: A Report From the National Wilms Tumor Study Group

Abstract

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.

Membranoproliferative glomerulonephritis associated with a mutation in Wilms’ tumour suppressor gene 1

“…In our patient, this was performed because of her previous history. However, Wilms' tumour in association with WT1 mutations can occur in children up to the age of 9 years [14]. Identification of such a mutation in a child presenting with MPGN below this age would, thus, have major implications for the risk of the child's developing Wilms tumour and for screening for it.…”

Aniridia

“…WAGR Wilms tumours are more likely to be bilateral, and present earlier than other Wilms tumours. 3,21 Developmental kidney abnormalities, including focal segmental glomerulosclerosis, are more common, as is end-stage renal disease. 22 Genitourinary abnormalities include cryptorchidism (in 60% of males), hypospadias and ambiguous genitalia, uterine abnormalities, streak ovaries, ureteric abnormalities and gonadoblastoma.…”

WT1 in disease: shifting the epithelial–mesenchymal balance

“…Based on their location, they are categorized as perilobar or intralobar nephrogenic rests. The two types are associated with different prognoses and responses to therapy, with the intralobar rest-associated tumours showing the better outcome [34].…”