Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy

The diagnosis of Hirschsprung’s disease relies on histologically proven aganglionosis and nerve trunk hypertrophy in rectal biopsies. Although the frequency of inconclusive biopsies is relatively low, it is a relevant clinical problem. The aim of the present study was to investigate whether a re-eva...

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Main Authors: Leise Elisabeth Hviid Korsager, Niels Bjørn, Mark Bremholm Ellebæk, Lene Gaardsmand Christensen, Niels Qvist
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Children
Subjects:
Online Access:https://www.mdpi.com/2227-9067/10/10/1619
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author Leise Elisabeth Hviid Korsager
Niels Bjørn
Mark Bremholm Ellebæk
Lene Gaardsmand Christensen
Niels Qvist
author_facet Leise Elisabeth Hviid Korsager
Niels Bjørn
Mark Bremholm Ellebæk
Lene Gaardsmand Christensen
Niels Qvist
author_sort Leise Elisabeth Hviid Korsager
collection DOAJ
description The diagnosis of Hirschsprung’s disease relies on histologically proven aganglionosis and nerve trunk hypertrophy in rectal biopsies. Although the frequency of inconclusive biopsies is relatively low, it is a relevant clinical problem. The aim of the present study was to investigate whether a re-evaluation of archived full-thickness biopsies (FTBs) stained with hematoxylin and eosin (HE), together with immune histochemical (IHC) staining, would be diagnostic in biopsies otherwise deemed inconclusive at initial examination with HE only. A total of 34 inconclusive biopsies in 31 patients were identified. From each tissue block, three slices were cut and stained with HE, S100 and calretinin. A blinded pathologist examined the tissue samples. At re-evaluation, one patient was found positive for HD and 11 negative for HD with both HE and IHC staining, respectively. In all 12 cases, the result was confirmed by the final diagnosis at a 5-year follow-up. The rest of the cases were deemed inconclusive. A re-evaluation of the remaining tissue from the biobank might have saved one third of the children from a re-biopsy. The value of adding IHC to conventional HE staining is dubious.
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spelling doaj.art-59659d8772c94ec18a5d348a9b039b432023-11-19T16:04:39ZengMDPI AGChildren2227-90672023-09-011010161910.3390/children10101619Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive BiopsyLeise Elisabeth Hviid Korsager0Niels Bjørn1Mark Bremholm Ellebæk2Lene Gaardsmand Christensen3Niels Qvist4Research Unit for Surgery, Odense University Hospital, University of Southern Denmark, 5230 Odense, DenmarkResearch Unit for Surgery, Odense University Hospital, University of Southern Denmark, 5230 Odense, DenmarkResearch Unit for Surgery, Odense University Hospital, University of Southern Denmark, 5230 Odense, DenmarkResearch Unit for Pathology, Odense University Hospital, University of Southern Denmark, 5230 Odense, DenmarkResearch Unit for Surgery, Odense University Hospital, University of Southern Denmark, 5230 Odense, DenmarkThe diagnosis of Hirschsprung’s disease relies on histologically proven aganglionosis and nerve trunk hypertrophy in rectal biopsies. Although the frequency of inconclusive biopsies is relatively low, it is a relevant clinical problem. The aim of the present study was to investigate whether a re-evaluation of archived full-thickness biopsies (FTBs) stained with hematoxylin and eosin (HE), together with immune histochemical (IHC) staining, would be diagnostic in biopsies otherwise deemed inconclusive at initial examination with HE only. A total of 34 inconclusive biopsies in 31 patients were identified. From each tissue block, three slices were cut and stained with HE, S100 and calretinin. A blinded pathologist examined the tissue samples. At re-evaluation, one patient was found positive for HD and 11 negative for HD with both HE and IHC staining, respectively. In all 12 cases, the result was confirmed by the final diagnosis at a 5-year follow-up. The rest of the cases were deemed inconclusive. A re-evaluation of the remaining tissue from the biobank might have saved one third of the children from a re-biopsy. The value of adding IHC to conventional HE staining is dubious.https://www.mdpi.com/2227-9067/10/10/1619Hirschsprung’s diseasefull-thickness rectal biopsyinconclusive biopsieshematoxylineosinimmunohistochemistry
spellingShingle Leise Elisabeth Hviid Korsager
Niels Bjørn
Mark Bremholm Ellebæk
Lene Gaardsmand Christensen
Niels Qvist
Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy
Children
Hirschsprung’s disease
full-thickness rectal biopsy
inconclusive biopsies
hematoxylin
eosin
immunohistochemistry
title Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy
title_full Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy
title_fullStr Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy
title_full_unstemmed Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy
title_short Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung’s Disease: The Inconclusive Biopsy
title_sort full thickness rectal biopsy in children suspected of having hirschsprung s disease the inconclusive biopsy
topic Hirschsprung’s disease
full-thickness rectal biopsy
inconclusive biopsies
hematoxylin
eosin
immunohistochemistry
url https://www.mdpi.com/2227-9067/10/10/1619
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