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Wilms tumor associated with hirschsprung disease

Julie Blatt1, Don Nakayama

  • 1Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USA. jblat@med.unc.edu

Journal of Pediatric Hematology/Oncology
|December 20, 2007
PubMed

Insights

Hirschsprung disease (HD) is linked to kidney problems. A child with HD and Wilms tumor (WT) was studied, suggesting the RET gene may play a role in both conditions.

Area of Science:

  • Pediatric oncology
  • Gastroenterology
  • Genetics

Background:

  • Hirschsprung disease (HD) is a congenital disorder affecting the large intestine.
  • Multiple renal malformations are known to be associated with Hirschsprung disease.
  • The RET protooncogene is implicated in HD pathogenesis and kidney development.

Observation:

  • This report details a pediatric case of Hirschsprung disease co-occurring with Wilms tumor (WT).
  • The patient presented with both gastrointestinal and renal abnormalities.

Findings:

  • A limited analysis of the RET gene for mutations common in Multiple Endocrine Neoplasia type 2A was performed.
  • No RET gene abnormalities were identified in this initial evaluation.

Implications:

  • The study speculates that comprehensive RET gene analysis may reveal mutations contributing to Wilms tumor development in patients with Hirschsprung disease.
  • Further research into the RET gene's role in pediatric cancers like Wilms tumor is warranted.
  • This case highlights the potential genetic links between congenital gastrointestinal and renal anomalies.

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