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Updated: Aug 16, 2025

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

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

Hirschsprung Disease for the Practicing Surgical Pathologist.

Karen Matsukuma¹, Dorina Gui¹, Payam Saadai^2,3

¹Department of Pathology and Laboratory Medicine, University of California Davis School of Medicine, Sacramento, CA, USA.

American Journal of Clinical Pathology

|December 24, 2022

Summary

Hirschsprung disease (HD) diagnosis is challenging for pathologists. Recent advancements in histologic criteria and calretinin immunohistochemistry have improved diagnostic accuracy for this critical congenital condition.

Keywords:

Ganglion cells HSCR Hirschsprung disease Submucosal nerve hypertrophy Suction rectal biopsy

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Last Updated: Aug 16, 2025

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

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Area of Science:

Gastrointestinal Pathology
Pediatric Surgery
Congenital Diseases

Background:

Hirschsprung disease (HD) is a congenital absence of enteric ganglion cells in the distal gastrointestinal tract.
Diagnosing HD presents challenges due to specimen rarity and preanalytic factors impacting interpretation.
Accurate diagnosis of HD is critical due to its high-stakes nature.

Approach:

This review provides a comprehensive overview of HD, including clinical procedures and pathologic assessment.
It details grossing and frozen section protocols, an algorithmic diagnostic approach, and key histologic findings.
Emphasis is placed on recognizing diagnostic pearls and avoiding pitfalls.

Key Points:

Diagnostic evaluation of HD has evolved significantly over the past two decades.
Calretinin immunohistochemistry and refined histologic criteria for the transition zone have enhanced diagnostic reliability.
These advancements aid pathologists in the accurate identification of Hirschsprung disease.

Conclusions:

Modern diagnostic tools have substantially improved the ability to evaluate for HD.
Despite advancements, clear communication between pathologists and clinicians remains essential for high-stakes specimens.
Reliable diagnosis of Hirschsprung disease is crucial for patient management.