This is a genotype with recommended actions if clinically confirmed. In brief:
- Individuals with germline WT1 pathogenic variants are more likely to develop kidney tumors at an early age. The median age of diagnosis is between 3 and 4 years. Prognosis is favorable with a survival rate of over 90%.
- The goal of surveillance in individuals carrying WT1 mutations is to detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors.
- Evaluation with abdominal ultrasound is recommended every 3-4 months, no less frequently than 3 times a year, until age five.
- Note that the cost/benefit ratio of surveillance is not well documented.
The full ClinGen Actionability report about Wilms tumors can be found here.
Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.