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Updated: Jul 9, 2026
05:45
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Wilms tumor associated with hirschsprung disease
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
Summary
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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