From the Guidelines
Wilms tumor patients should undergo testing for variants in REST as part of panel testing, and if a pathogenic variant is found, cascade testing and surveillance by renal ultrasound for variant carriers every 3 months until 8 years of age is recommended. This approach is based on recent evidence from 2025, which highlights the importance of identifying genetic predispositions to Wilms tumor, particularly in cases with familial history or early onset 1. The study found that REST pathogenic variants are present in a significant number of individuals with Wilms tumor, with or without a family history, and that these variants are associated with reduced penetrance 1.
Key Considerations
- Wilms tumor is a rare kidney cancer that primarily affects children, typically diagnosed between ages 3 and 4.
- Treatment involves a multimodal approach including surgery, chemotherapy, and possibly radiation therapy, with the specific regimen depending on tumor stage and histology.
- Prognosis is generally excellent, with over 90% survival rates for localized disease, making early detection and prompt treatment crucial.
- Genetic mutations, such as those in the WT1 gene or REST, play a significant role in the development of Wilms tumor, and identifying these mutations can inform treatment and surveillance strategies 1.
Surveillance and Follow-up
- Regular follow-up care is essential to monitor for recurrence and late effects of treatment, including kidney function, growth, and development.
- Surveillance by renal ultrasound every 3 months until 8 years of age is recommended for individuals with a family history of Wilms tumor or those found to carry a pathogenic variant in REST 1.
- Early detection through prompt evaluation of abdominal masses improves outcomes, making timely medical attention for any suspicious symptoms crucial.
From the Research
Overview of Wilms Tumor
- Wilms tumor, also known as nephroblastoma, is the most common primary renal tumor in children 2.
- The five-year survival rate for children with all stages of favorable histology Wilms tumor is more than 90% when appropriate treatment is received 2.
Treatment of Wilms Tumor
- Treatment of Wilms tumor includes surgery, neoadjuvant or adjuvant chemotherapy, and radiation therapy if needed 2.
- A multidisciplinary team with experience in managing renal tumors should manage all patients with Wilms tumor, and consulting a pediatric oncologist is strongly encouraged 2.
- For patients with typical clinical features of Wilms tumor, biopsy should not be done before chemotherapy, and neoadjuvant chemotherapy should precede surgical resection 3.
- Resection should include a large transperitoneal laparotomy, adequate lymph node sampling, and documentation of staging findings 3.
Relapse and Survival
- A significant proportion of children with Wilms tumor who relapse after initial treatment with vincristine and actinomycin D can be successfully re-treated 4.
- The event-free survival 4 years after relapse was 71.1%, and the 4-year overall survival was 81.8% for all patients 4.
- For adult Wilms tumor, early diagnosis, successful surgery, and standardized postoperative adjuvant therapy according to pathological typing and staging are key points to improve survival 5.
Chemotherapy and Radiation Therapy
- Doxorubicin-vincristine chemotherapy appears to be effective for Wilms tumor 6.
- Postoperative radiotherapy should be administered within 14 days of surgery when indicated 3.
- Post-chemotherapy pulmonary oligometastasis should be resected when feasible, if local protocols allow omission of whole-lung irradiation in patients with nonanaplastic histology stage IV Wilms tumor with pulmonary metastasis without evidence of extrapulmonary metastasis 3.