Clinical Outcomes in Pediatric Patients with Predisposition Syndromes with Renal Lesions

Most Wilms tumors (WT) occur sporadically in healthy children. However, a small subset occur in children with genetic predisposition syndromes. While over 50 different syndromes are reportedly associated with WT, there is little contemporary research reporting rates of development of WT in such patients and existing case reports likely overestimate the prevalence. These children undergo routine surveillance for the development of WT, which may detect renal lesions of uncertain malignant potential, including nephrogenic rests (NRs). NRs are groups of embryonic metanephric cells that may act as precursor lesions for Wilms tumor (WT), but distinguishing NRs from WT is challenging without histologic confirmation. Furthermore, the clinical course of NRs is highly variable, with most NRs demonstrating regression while others progress to WT. The risk factors associated with progression to WT are poorly understood and determining the optimal treatment approach is challenging. This project aims to describe the incidence of renal lesions of uncertain malignant potential in pediatric patients with known predisposition syndromes as well as the surveillance approach for these children. Secondary aims are to describe the presentation, workup, treatment, and outcomes for renal lesions when diagnosed in this patient population.

Consortium PIs: Erin Brown and Tim Lautz

Please contact Maddie Peters (Madeline.Peters@cchmc.org) if you have any questions about how to activate the study at your PSORC site.