Diagnosis of Hirschsprung disease by analyzing acetylcholinesterase staining using artificial intelligence.

aganglionosis digital pathology machine learning rectal biopsy

Journal

Journal of pediatric gastroenterology and nutrition
ISSN: 1536-4801
Titre abrégé: J Pediatr Gastroenterol Nutr
Pays: United States
ID NLM: 8211545

Informations de publication

Date de publication:
09 Aug 2024
Historique:
revised: 15 07 2024
received: 13 03 2024
accepted: 21 07 2024
medline: 9 8 2024
pubmed: 9 8 2024
entrez: 9 8 2024
Statut: aheadofprint

Résumé

Classical Hirschsprung disease (HD) is defined by the absence of ganglion cells in the rectosigmoid colon. The diagnosis is made from rectal biopsy, which reveals the aganglionosis and the presence of cholinergic hyperinnervation. However, depending on the method of rectal biopsy, the quality of the specimens and the related diagnostic accuracy varies substantially. To facilitate and objectify the diagnosis of HD, we investigated whether software-based identification of cholinergic hyperinnervation in digitalized histopathology slides is suitable for distinguishing healthy individuals from affected individuals. N = 190 samples of 112 patients who underwent open surgical rectal biopsy at our pediatric surgery center between 2009 and 2019 were included in this study. Acetylcholinesterase (AChE) stained slides of these samples were collected and digitalized via slide scanning and analyzed using two digital imaging software programs (HALO, QuPath). The AChE-positive staining area in the mucosal layers of the intestinal wall was determined. In the next step machine learning was employed to identify patterns of cholinergic hyperinnervation. The area of AChE-positive staining was greater in HD patients compared to healthy individuals (p < 0.0001). Artificial intelligence-based assessment of parasympathetic hyperinnervation identified Hirschsprung disease with a high precision (area under the curve [AUC] 0.96). The accuracy of the prediction model increased when nonrectal samples were excluded (AUC 0.993). Software-assisted machine-learning analysis of AChE staining is suitable to improve the diagnostic accuracy of Hirschsprung disease.

Identifiants

pubmed: 39118474
doi: 10.1002/jpn3.12339
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : None

Informations de copyright

© 2024 The Author(s). Journal of Pediatric Gastroenterology and Nutrition published by Wiley Periodicals LLC on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

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Auteurs

Yannick Braun (Y)

Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt, Goethe-University, Frankfurt am Main, Germany.

Florian Friedmacher (F)

Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt, Goethe-University, Frankfurt am Main, Germany.

Till-Martin Theilen (TM)

Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt, Goethe-University, Frankfurt am Main, Germany.

Henning C Fiegel (HC)

Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt, Goethe-University, Frankfurt am Main, Germany.

Katharina Weber (K)

Neurological Institute, Edinger Institute, Neuropathology, Goethe University, Frankfurt am Main, Germany.
German Cancer Consortium (DKTK), Partner Site Frankfurt, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Frankfurt Cancer Institute (FCI), Frankfurt am Main, Germany.
Center for Tumor Diseases, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.

Patrick N Harter (PN)

Neurological Institute, Edinger Institute, Neuropathology, Goethe University, Frankfurt am Main, Germany.
Centre for Neuropathology and Prion-Research, Ludwig-Maximilians-Universität München, München, Germany.

Udo Rolle (U)

Department of Pediatric Surgery and Pediatric Urology, University Hospital Frankfurt, Goethe-University, Frankfurt am Main, Germany.

Classifications MeSH