Surgical pathology of Hirschsprung disease (HSCR).

Abstract

The practice, art and science of surgical pathology for disease entities evolves continuously. Standards for diagnosis and management of Hirschsprung disease (HSCR), variants and related dysmotility disorders are no exception. Morphologic parameters that withstand the test of time still fulfill aims for 'personalized' and precision medicine. The expert management of these patients relies on critical points of interaction between pathologists, gastroenterologists and pediatric surgeons for: (1) diagnosis or exclusion within the HSCR spectrum, (2) intraoperative determination of the extent of aganglionosis and HSCR transition zone features, (3) validation of optimal proximal margin for primary pull-through or ostomy site and (4) confirmation of specimen adequacy and diagnoses in the event of postoperative dysfunction or need of outside case material review for referred patients. Additional roles in pathologists' scope include specimen triage for HSCR specialized ancillary procedures and other intestinal motility disorders, and in contributing surgical specimens for research collaboratives. This review highlights the cumulative experience of the authors' integrated practice model for patients with HSCR and explores the approach for patients with prototypical or challenging presentations and management. It is intended primarily for pediatric surgeons and gastroenterologists who seek to assimilate surgical pathology practice based on available relevant HSCR literature, recognizing that each patient poses a unique constellation of functional manifestations and histopathologic expression of Hirschsprung Disease.