2019 Volume 56 Issue 3 Pages 334-337
Recent studies using a next-generation sequencer demonstrated that at least 10% of pediatric cancer patients have a germline mutation in a cancer predisposition gene. Modern treatments for patients with Wilms tumor achieved overall survival rates of approximately 90%; however, 24% of the patients suffer from severe chronic health conditions. WT1 is a master gene for kidney development, and its germline mutations cause Wilms tumor as well as chronic kidney disease. In addition to the adverse effects of surgery, radiotherapy and/or chemotherapy, WT1 germline mutations may cause end-stage renal disease, and its prevention is needed to reduce late mortality. Children with Drash or Wilms tumor-aniridia-genitourinary anomalies-range of developmental delays (WAGR) syndrome or 46,XY disorders of sex development (DSD) and a family history of Wilms tumor may have a WT1 germline mutation. After confirming the mutation, surveillance is recommended to detect asymptomatic Wilms tumor. Nephron-preserving surgery for the small tumor may prevent end-stage renal disease. Thus, genetic counseling and genetic testing will lead to the understanding of the precise mechanism underlying late adverse effects, their prevention, and an improved outcome.
