Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature

J Pediatr Hematol Oncol. 2019 Nov;41(8):e517-e520. doi: 10.1097/MPH.0000000000001322.


Background: The 9q22.3 syndrome is an autosomal dominant microdeletion syndrome with similarities to Gorlin syndrome (GS). It encompasses the PTCH1 gene locus that harbors mutations for GS. Although the 9q22.3 syndrome is associated with Wilms tumor (WT), WT is not a GS-associated tumor, implying a different mechanism involving PTCH1, or a different locus in the 9q22.3 region. The goal of this study is to report the association between WT and 9q22.3 syndrome and review the outcome of treatment.

Observations: We report 2 new cases of WT with 9q22.3 deletion and review the literature. Among the 44 described patients with 9q22.3 deletion, 7 developed WT (16%) at a mean age of 45 months (range, 4 to 84 mo). All patients had dysmorphic features, macrocephaly, and developmental delay, and there was an association with overgrowth (4/7). One patient had bilateral WT, another had a synchronous rhabdomyosarcoma. The outcome was excellent with all cases reported to be in complete remission.

Conclusions: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosome Disorders / surgery
  • Chromosomes, Human, Pair 9 / genetics
  • Female
  • Humans
  • Infant
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Kidney Neoplasms / surgery
  • Male
  • Neoplasms, Second Primary / genetics*
  • Neoplasms, Second Primary / pathology
  • Neoplasms, Second Primary / surgery
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / pathology
  • Rhabdomyosarcoma / surgery
  • Wilms Tumor / genetics*
  • Wilms Tumor / pathology
  • Wilms Tumor / surgery

Supplementary concepts

  • 9q22.3 Microdeletion