Patients with an unusual complex of congenital developmental abnormalities, such as aniridia (see the image below), genitourinary (GU) malformations, and mental retardation, are at high risk (>30%) of having a Wilms tumor. At birth, the association is aniridia, GU malformations, and mental retardation (AGR) syndrome. With the discovery of a Wilms tumor in these patients, the association is referred to as WAGR syndrome. These syndromes result from the loss of chromosomal material from the short arm of chromosome 11.
Aniridia. Note the almost complete absence of the iris.
Aniridia, GU malformations, and mental retardation are usually detected in the perinatal period, and patients with these conditions require careful long-term follow-up, both because of the consequences of the congenital defects and because of the potential development of a Wilms tumor. Early tumor detection has improved the long-term disease-free survival of children with WAGR syndrome.
See Wilms Tumor: A Pediatric Oncology Success Story, a Critical Images slideshow, to help identify the clinical features, staging evaluation, prognostic factors, and therapeutic options for this tumor.