Hirschsprung Disease for the Practicing Surgical Pathologist

• Published in: American journal of clinical pathology Vol. 159; no. 3; pp. 228 - 241
• Main Authors: Matsukuma, Karen, Gui, Dorina, Saadai, Payam
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 13.03.2023
• Subjects: Anatomy; Biopsy; Calbindin 2; Calretinin; Congenital diseases; Constipation; Diagnosis; Disease; Ganglion cells; Gastrointestinal system; Gastrointestinal tract; Genetic disorders; Hirschsprung Disease - diagnosis; Hirschsprung Disease - pathology; Hirschsprung Disease - surgery; Hirschsprung's disease; Humans; Immunohistochemistry; Infant; Nervous system; Neurophysiology; Pathologists; Pathology; Rectum - pathology; Rectum - surgery; Smooth muscle; Surgeons; HSCR; Ganglion cells; Submucosal nerve hypertrophy; Hirschsprung disease; Suction rectal biopsy
• ISSN: 0002-9173; 1943-7722
• DOI: 10.1093/ajcp/aqac141

Abstract Objectives Hirschsprung disease (HD) is a congenital condition defined by the absence of ganglion cells in the distal-most portion of the gastrointestinal tract. Biopsies and resections for HD can be adrenaline inducing for the general surgical pathologist because specimens are infrequent; HD is 1 of only a few neuroanatomic diseases that general surgical pathologists diagnose; numerous preanalytic factors (eg, biopsy adequacy, surgeon sampling protocol, processing artifacts) can affect histologic interpretation; and most importantly, the diagnosis has high stakes. Methods We provide a comprehensive overview of the background, relevant clinical procedures, and pathologic assessment of HD. Grossing and frozen section protocols, an algorithmic approach to diagnosis, and histologic pearls and pitfalls are also discussed. Results Evaluation and recognition of the features of HD have evolved significantly in the past 2 decades with the discovery of the value of calretinin immunohistochemistry in the late 2000s and the recent development of straightforward and reproducible histologic criteria for identification of the HD transition zone. Conclusions These advancements have substantially improved the pathologist’s ability to reliably evaluate for HD. Nonetheless, as with any high-stakes surgical pathology specimen, clear communication with the clinical team is essential.