Background: The association between Wilms' tumor (WT) and genitourinary (GU) anomalies has long been appreciated; however, associated GU anomalies have been described almost exclusively in males.
Methods: To investigate whether females with WT also have an increased prevalence of GU anomalies, the authors evaluated the uterine anatomy of 24 WT survivors using magnetic resonance imaging and ultrasonography.
Results: Two of 24 female survivors (8%) had anomalies. One had a septate uterus, and a limited molecular analysis of her constitutional DNA revealed no mutations or deletions of the tumor suppressor gene WT1. Another survivor with the WAGR syndrome (WT, aniridia, GU anomalies, and retardation), with the characteristic 11p13 deletion including WT1, had a uterine anomaly (hypoplastic vs. unicornuate).
Conclusions: Because uterine malformations are rare in the general population, this finding suggests an association between WT and uterine malformations and also may partially explain the fertility deficit previously demonstrated in adult female WT survivors. Pelvic ultrasonography in adult female WT survivors can alert survivors and clinicians to possible fertility problems that may lead to problem pregnancies and adverse pregnancy outcomes.
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