Wilms tumor risk and management in WAGR Syndrome
Mentor Name: Jennifer Kalish
WAGR spectrum is a cancer predisposition disorder characterized by Wilms tumor(WT) Aniridia, Genitourinary anomalies, and Range of developmental delays. 50% of patients with WAGR spectrum will develop WT and improvements in cancer screening guidelines are warranted. Self-reported data from the WAGR Discovery Cohort can be used to highlight key data points such as prevalence of WT within the cohort, average age of diagnosis, and phenotypic features that typically accompany WT. In addition, a more comprehensive understanding of cancer outcomes based on a patient’s genotype/phenotype profile is needed. This can be accomplished by initiating a pilot study consisting of a cohort of about 25-35 patients that can serve as an initial validation cohort. A complete clinical analysis of patient health records and molecular analysis of a patient’s genotype will enhance understanding of the characteristics and pathophysiology of WT in patients with WAGR spectrum. Ultimately, this work will help improve cancer screening guidelines and outcomes for children with WAGR spectrum.
