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Updated: Dec 22, 2025
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
Diagnostic Algorithm in Hirschsprung's Disease: Focus on Immunohistochemistry Markers
Przemyslaw Galazka1,2, Lukasz Szylberg3, Magdalena Bodnar3
1Department of General and Oncological Surgery for Children and Adolescents, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland galazkaprzemek@hotmail.com.
A new diagnostic algorithm using CD56 and S-100 antibodies aids in identifying ganglion cells for Hirschsprung disease (HD) diagnosis. This method improves accuracy in diagnosing this congenital bowel condition in children.
Area of Science:
- Pediatric Pathology
- Gastroenterology
- Immunohistochemistry
Background:
- Hirschsprung disease (HD) is a congenital condition characterized by the absence of ganglion cells in the distal bowel.
- Rectal biopsy is a key diagnostic tool for HD, requiring accurate identification of ganglion cells.
Purpose of the Study:
- To develop a diagnostic algorithm for Hirschsprung disease using a minimal set of antibodies.
- To optimize immunohistochemical staining for improved ganglion cell detection.
Main Methods:
- Immunohistochemical staining was performed on rectal and colonic biopsies from patients with HD (n=26) and controls (n=34).
- Antibodies targeting MAP1b, peripherin, S-100, calretinin, NSE, bcl-2, and CD56 were utilized.
Main Results:
- Staining for CD56, S-100, peripherin, and calretinin effectively identified ganglion cells.
- Combined use of CD56 and S-100 antibodies yielded the highest ganglion cell staining intensity (94%).
Conclusions:
- A practical diagnostic algorithm employing CD56 and S-100 antibodies is proposed for clinical use.
- This algorithm can assist in the diagnosis of Hirschsprung disease in pediatric patients.
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