Hirschsprung Disease for the Practicing Surgical Pathologist

Matsukuma, Karen; Gui, Dorina; Saadai, Payam

doi:10.1093/ajcp/aqac141

Cited by 8 publications

(4 citation statements)

References 45 publications

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“…It is generally accepted that the detection of a single ganglion cell via conventional HE either in the myenteric or submucosal plexus excludes the diagnosis of HD [9,10]. Some have recommended that a minimum of 50 HE levels must be examined to confirm [1].…”

Section: Discussionmentioning

confidence: 99%

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

Korsager,

Bjørn,

Ellebæk

et al. 2023

Children

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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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Section: Discussionmentioning

confidence: 99%

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

Korsager,

Bjørn,

Ellebæk

et al. 2023

Children

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“…Histopathologic evaluation of the resected specimen should always address the following issues: 24 • Confirmation of HSCR diagnosis.…”

Section: Evaluation Of the Resection Specimenmentioning

confidence: 99%

The Pathologist's Role in the Diagnosis of Hirschsprung's Disease

Erbersdobler

2024

Eur J Pediatr Surg

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Introduction The possibilities, recent advances, and pitfalls in the histopathologic workup of specimens submitted for the diagnosis of Hirschsprung's disease (HSCR) are presented. Materials and Methods A literature research was performed in the database PubMed including the years 2000 to 2024. Results The pathologist is involved in the diagnosis of HSCR in three scenarios: (1) the primary diagnosis in a child with the typical clinical symptoms, (2) the intra-operative guidance of surgery in a case where the diagnosis is already established, and (3) the confirmation of the diagnosis and the documentation of the extent of the disease in the resected specimen. Identification of ganglion cells in the enteric neural plexuses excludes HSCR, and the histological confirmation of a complete absence of these ganglion cells is the gold standard for its diagnosis. However, difficulties in the detection of ganglion cells with standard stains and/or a limited amount of tissue in the specimen submitted for diagnosis make supportive histologic stains and techniques, e.g., calretinin immunohistochemistry or acetylcholinesterase histochemistry necessary for an unequivocal diagnosis of HSCR. Conclusions Improving the diagnostic accuracy of this life-threating disease is an interdisciplinary task. A good communication between pathologist and clinician, as well as mutual knowledge of skills and challenges of the other discipline, is necessary for a successful diagnostic teamwork.

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“…A variety of diagnostic tests including contrast enema and anorectal manometry may be used as diagnostic screens, but diagnosis ultimately lays upon histopathological examination of a rectal biopsy. The diagnostic histological features of HD include the absence of ganglion cells and an increase in hypertrophic cholinergic nerves [ 2 ]. The accurate assessment of these histological features plays a pivotal role in planning a correct surgery needed to remove the non-functioning bowel.…”

Section: Purposementioning

confidence: 99%

Enhancing diagnosis of Hirschsprung’s disease using deep learning from histological sections of post pull-through specimens: preliminary results

Duci,

Magoni,

Santoro

et al. 2023

Pediatr Surg Int

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Purpose Accurate histological diagnosis in Hirschsprung disease (HD) is challenging, due to its complexity and potential for errors. In this study, we present an artificial intelligence (AI)-based method designed to identify ganglionic cells and hypertrophic nerves in HD histology. Methods Formalin-fixed samples were used and an expert pathologist and a surgeon annotated these slides on a web-based platform, identifying ganglionic cells and nerves. Images were partitioned into square sections, augmented through data manipulation techniques and used to develop two distinct U-net models: one for detecting ganglionic cells and normal nerves; the other to recognise hypertrophic nerves. Results The study included 108 annotated samples, resulting in 19,600 images after data augmentation and manually segmentation. Subsequently, 17,655 slides without target elements were excluded. The algorithm was trained using 1945 slides (930 for model 1 and 1015 for model 2) with 1556 slides used for training the supervised network and 389 for validation. The accuracy of model 1 was found to be 92.32%, while model 2 achieved an accuracy of 91.5%. Conclusion The AI-based U-net technique demonstrates robustness in detecting ganglion cells and nerves in HD. The deep learning approach has the potential to standardise and streamline HD diagnosis, benefiting patients and aiding in training of pathologists.

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Hirschsprung Disease for the Practicing Surgical Pathologist

Cited by 8 publications

References 45 publications

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

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

The Pathologist's Role in the Diagnosis of Hirschsprung's Disease

Enhancing diagnosis of Hirschsprung’s disease using deep learning from histological sections of post pull-through specimens: preliminary results

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