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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2025-02-01
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| author | Emőke Horváth Zoltán Derzsi Eliza Löckli Gyopár-Beáta Molnár Zsolt Bara Evelyn Kovács Horea Gozar |
| author_facet | Emőke Horváth Zoltán Derzsi Eliza Löckli Gyopár-Beáta Molnár Zsolt Bara Evelyn Kovács Horea Gozar |
| author_sort | Emőke Horváth |
| collection | DOAJ |
| description | 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. |
| format | Article |
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| issn | 2075-1729 |
| language | English |
| publishDate | 2025-02-01 |
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| spelling | doaj-art-e415607ed22f40a0a10a07f9cf660b2d2025-08-20T02:11:08ZengMDPI AGLife2075-17292025-02-0115332910.3390/life15030329Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational StudyEmőke Horváth0Zoltán Derzsi1Eliza Löckli2Gyopár-Beáta Molnár3Zsolt Bara4Evelyn Kovács5Horea Gozar6Department of Pathology, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540142 Targu Mures, RomaniaDepartment of Pediatric Surgery and Orthopedics, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540142 Targu Mures, RomaniaGeorge Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540142 Targu Mures, RomaniaPathology Service, Targu Mures, County Emergency Clinical Hospital, 540136 Targu Mures, RomaniaDepartment of Pediatric Surgery and Orthopedics, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540142 Targu Mures, RomaniaClinic of Pediatric Surgery and Orthopedics, Targu Mures, County Emergency Clinical Hospital, 540136 Targu Mures, RomaniaDepartment of Pediatric Surgery and Orthopedics, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540142 Targu Mures, RomaniaBackground: 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.https://www.mdpi.com/2075-1729/15/3/329aganglionosiscalretininCD56 and S-100 immunohistochemistrynerve trunk hypertrophydiagnostic algorithm in rectal biopsies |
| spellingShingle | Emőke Horváth Zoltán Derzsi Eliza Löckli Gyopár-Beáta Molnár Zsolt Bara Evelyn Kovács Horea Gozar Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study Life aganglionosis calretinin CD56 and S-100 immunohistochemistry nerve trunk hypertrophy diagnostic algorithm in rectal biopsies |
| title | Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study |
| title_full | Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study |
| title_fullStr | Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study |
| title_full_unstemmed | Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study |
| title_short | Histopathologic Concerns and Diagnostic Challenges in Hirschsprung’s Disease: An Eastern European Single-Center Observational Study |
| title_sort | histopathologic concerns and diagnostic challenges in hirschsprung s disease an eastern european single center observational study |
| topic | aganglionosis calretinin CD56 and S-100 immunohistochemistry nerve trunk hypertrophy diagnostic algorithm in rectal biopsies |
| url | https://www.mdpi.com/2075-1729/15/3/329 |
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