Abstract

Histopathologic diagnosis of Hirschsprung's disease (HSCR) is time consuming and requires expertise. The use of artificial intelligence (AI) in digital pathology is actively researched and may improve the diagnosis of HSCR. The purpose of this research was to develop an algorithm capable of identifying ganglion cells in digital pathology slides and implement it as an assisting tool for the pathologist in the diagnosis of HSCR. Ninety five digital pathology slides were used for the construction and training of the algorithm. Fifty cases suspected for HSCR (727 slides) were used as a validation cohort. Image sets suspected to contain ganglion cells were chosen by the algorithm and then reviewed and scored by five pathologists, one HSCR expert and 4 non-experts. The algorithm was able to identify ganglion cells with 96% sensitivity and 99% specificity (in normal colon) as well as to correctly identify a case previously misdiagnosed as non-HSCR. The expert was able to achieve perfectly accurate diagnoses based solely on the images suggested by the algorithm, with over 95% time saved. Non-experts would require expert consultation in 20–58% of the cases to achieve similar results. The use of AI in the diagnosis of HSCR can greatly reduce the time and effort required for diagnosis and improve accuracy.

Highlights

  • Histopathologic diagnosis of Hirschsprung’s disease (HSCR) is time consuming and requires expertise

  • In the validation cohort of cases suspected for HSCR: the algorithm selected 12 areas suspected for containing ganglion cells, which represent less than 0.01% of the total tissue area

  • The system showed a sensitivity of 100% for detecting ganglion cells with an estimated time requirement of less than 5% of that of a full analysis by a pathologist

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Summary

Introduction

Histopathologic diagnosis of Hirschsprung’s disease (HSCR) is time consuming and requires expertise. The purpose of this research was to develop an algorithm capable of identifying ganglion cells in digital pathology slides and implement it as an assisting tool for the pathologist in the diagnosis of HSCR. In HSCR the pathologist has to detect an extremely rare event of a single ganglion cell within dozens of slides. This diagnostic process is time and resource consuming, requiring multiple sections and often immunohistochemical stains for acetylcholine esterase and ­calretinin[8]. Despite these measures, inconclusive biopsy results are not uncommon (range 11–38%) and inter-observer variability among pathologists may exceed 20%9. Clinical applications include digital image analysis in various modalities in ­radiology[12,13,14], in some instances even showing superiority over a human o­ bserver[15]

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