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. 2020 May-Jun;34(3):1355-1359.
doi: 10.21873/invivo.11913.

Diagnostic Algorithm in Hirschsprung's Disease: Focus on Immunohistochemistry Markers

Przemyslaw Galazka  1   2 , Lukasz Szylberg  3 , Magdalena Bodnar  3 , Jan Styczynski  2 , Andrzej Marszalek  3   4
Affiliations

Diagnostic Algorithm in Hirschsprung's Disease: Focus on Immunohistochemistry Markers

Przemyslaw Galazka et al. In Vivo. 2020 May-Jun.

Abstract

Background/aim: Hirschsprung disease (HD) is caused by the congenital absence of ganglion cells in the distal bowel (aganglionosis). Rectal biopsy is considered important for its diagnosis. The aim of this study was to apply immunohistochemical staining using a minimal set of antibodies and develop an algorithm that will assist in the diagnosis of HD.

Patients and methods: Rectal or colonic biopsies were performed in patients with HD (n=26) or patients treated for other bowel diseases (n=34). Immunohistochemical staining was performed for MAP1b, peripherin, S-100, calretinin, NSE, bcl-2 and CD56 proteins.

Results: Staining for CD56, S-100, peripherin and calretinin facilitated the identification of ganglion cells. The use of CD56 and S-100 antibodies together resulted in the highest rate of ganglion cell staining intensity (94%).

Conclusion: We propose a practical diagnostic algorithm with the application of CD56 and S-100 antibodies that can be used in clinical practice in children suspected of Hirschsprung's disease.

Keywords: CD56; Hirschsprung's disease; Immunohistochemistry; S-100; calretinin; ganglion cells; peripherin.

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Conflict of interest statement

The Authors have no conflicts of interest to disclose in regard to this study.

Figures

Figure 1
Figure 1. Immunohistochemical staining: (A) ganglion cells distinction index; (B) ganglion cells staining intensity rate
Figure 2
Figure 2. Diagnostic algorithm based on verification of immunohistochemical markers in Hirschsprung’s disease
See this image and copyright information in PMC

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