Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study

Background: We proposed a comprehensive clinicopathological study involving the characterization of the study cohort and a comparative analysis of biopsies and surgical specimens from patients with Hirschsprung’s disease. The study was complemented by the diagnostic value of calretinin, CD56, and S-...

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Main Authors: Emőke Horváth, Zoltán Derzsi, Eliza Löckli, Gyopár-Beáta Molnár, Zsolt Bara, Evelyn Kovács, Horea Gozar
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:Life
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Online Access:https://www.mdpi.com/2075-1729/15/3/329
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Summary:Background: We proposed a comprehensive clinicopathological study involving the characterization of the study cohort and a comparative analysis of biopsies and surgical specimens from patients with Hirschsprung’s disease. The study was complemented by the diagnostic value of calretinin, CD56, and S-100 immunohistochemistry. Methods: Descriptive statistical analysis of diagnostic variables in the group of biopsy specimens (n = 32) and bowel resection specimens (n = 16) was performed. The pattern of calretinin and CD56 expression in Meissner’s plexus elements was analyzed and the maximum thicknesses of the nerve fibers were measured using morphometry with S100-immunostained sections. Conclusions: Coupled calretinin–CD56 immunohistochemistry is useful in diagnosing ganglion cell paucity biopsies or specimens with incomplete submucosa. In cases where there are no ganglion cells but there are calretinin-positive nerve fibrils in the lamina propria without nerve trunk (NT) hypertrophy, re-biopsy is the best solution. The significant differences in NT size between biopsies and surgical specimens highlight the importance of assessing NT diameter in all tissue samples examined.
ISSN:2075-1729