Management of Wilms tumors in Drash and Frasier syndromes

Pediatr Blood Cancer. 2009 Jan;52(1):55-9. doi: 10.1002/pbc.21759.


Background: Children with WT1 gene-related disorders such as Denys-Drash syndrome (DDS) and Frasier syndrome (FS) are at increased risk of Wilms tumor and end-stage renal disease. We investigated whether Wilms tumors in these patients displayed a specific phenotype or behavior and whether nephron-sparing surgery was beneficial.

Procedure: We retrospectively studied all patients with DDS, FS, or other WT1 mutations treated at our institutions between 1980 and 2007.

Results: We identified 20 patients, of whom 18 had benign or malignant tumors. Wilms tumors occurred in 15 patients, being unilateral in 10 and bilateral in 5 (20 tumors). Median age at Wilms tumor diagnosis was 9 months. No patients had metastases. According to the International Society of Pediatric Oncology Working Classification, there were 19 intermediate-risk tumors and one high-risk tumor; no tumor was anaplastic. In patients with nephropathy who underwent unilateral nephrectomy for Wilms tumor or nephron-sparing surgery for bilateral Wilms tumor, mean time to dialysis was 11 or 9 months, respectively. Other tumors included three gonadoblastomas (in two patients), one retroperitoneal soft-tissue tumor, and one transitional cell papilloma of the bladder. Two patients, both with stage I Wilms tumor, died from end-stage renal disease-related complications. The median follow-up time for the 18 survivors was 136 months (range, 17-224 months).

Conclusion: Most Wilms tumors in children with WT1-related disorders were early-stage and intermediate-risk tumors, with a young age at diagnosis. In patients without end-stage renal disease, nephron-sparing surgery should be considered for delaying the onset of renal failure.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Denys-Drash Syndrome / complications
  • Denys-Drash Syndrome / therapy*
  • Disease Management
  • Frasier Syndrome / complications
  • Frasier Syndrome / therapy*
  • Humans
  • Kidney Failure, Chronic / prevention & control
  • Nephrectomy
  • Retrospective Studies
  • Wilms Tumor / complications
  • Wilms Tumor / therapy*
  • Young Adult