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Updated: Jun 8, 2026

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
Nerve growth factor receptor immunohistochemistry has a limited additional value to diagnose Hirschsprung's disease
Anna Löf Granström1, Abiel Orrego, Pär-Johan Svensson
1Division of Pediatric Surgery, Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden. anna.lof@ki.se
Purpose:
The diagnosis of Hirschsprung's disease (HSCR) is based on the histopathological evaluation of rectal suction biopsies (RSB), using haematoxylin and eosin (H&E) stains and acetylcholinesterase (AChE) histochemistry. The use of different immunohistochemical markers, such as nerve growth factor receptor (NGFR), has been suggested to facilitate the diagnosis of HSCR. The aim of this study was to evaluate the addition of NGFR immunohistochemistry to diagnose HSCR.
Methods:
RSB from 23 HSCR patients and 16 patients investigated for, but not diagnosed with, HSCR were retrospectively reviewed. The histopathology report supported or did not support the diagnosis of HSCR.
Results:
In patients with HSCR, the primary biopsies confirmed the diagnosis in 21 of 23 cases with H&E staining, in 16 of 23 cases with AChE histochemistry, and in 8 of 23 cases with NGFR immunohistochemistry. Due to inadequate biopsies or equivocal interpretation, the biopsies were repeated in seven of the patients with HSCR and two patients underwent biopsies a third time. In the 16 patients investigated for but not diagnosed with HSCR, the three tests were normal in all cases.
Conclusion:
We conclude that NGFR immunohistochemistry has limited additional value to diagnose HSCR.

