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

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.

Clinical Spectrum and Outcomes of Neonatal Necrotizing Enterocolitis

“…We previously showed that in case of congenital abdominal cystic lesions, a laparoscopically assisted minimal-access approach resulted in minimal risk of complications and complete recovery in all patients (17). On the other hand, a completely different approach was necessary for patients with Hirschsprung's disease (18).…”

Ultra-High Frequency Ultrasound Imaging of Bowel Wall in Hirschsprung’s Disease—Correlation and Agreement Analyses of Histoanatomy

“…The surgical resection length of aganglionosis was decided based upon the pathologist’s analysis of intraoperative fresh frozen biopsies taken by the pediatric surgeon, confirming the presence of ganglionic bowel wall. The accuracy of the frozen biopsy results was confirmed by full histopathological analyses by histopathological staining with hematoxylin–eosin and immunohistochemistry (calretinin and S-100) [ 16 , 17 , 18 ] in a final pathology report of the whole resected specimen.…”

Role of the Intermediate Filament Protein Peripherin in Health and Disease

“…Peripherin seems to be superior compared to calretinin and MAP-2 in ruling out HD in small biopsies [ 86 ]. Another study recommended the staining of calretinin and peripherin together in patients diagnosed with aganglionosis [ 87 ].…”