title: The identification of ganglion cells in Hirschsprung disease by the immunohistochemical detection of ret oncoprotein.
abstract: The absence of ganglion cells (GCs) is the primary anatomic abnormality in Hirschsprung disease. Light microscopy is the mainstay in establishing this diagnosis. However, establishing a condition of aganglionosis may be challenging on routine H&E-stained sections of colonic biopsies and resections. We studied the identification of GCs by retinoblastoma oncoprotein (ret) immunoreactivity and routine H&E light microscopy by evaluating 53 blocks from 34 patients demonstrating GCs on original H&E-stained sections and 55 blocks from 38 patients lacking GCs on original H&E-stained sections. All blocks demonstrating GCs on H&E-stained sections also were positive for GCs on ret staining (100%). In 3 blocks that were negative for GCs by H&E staining (5%), GCs were shown on ret-stained sections. Immunoreactivity for ret has comparable specificity but slightly higher sensitivity to routine light microscopic evaluation in identifying GCs. GCs are identified more readily by ret immunoreactivity than by routine morphologic examination.
authors.affiliation: Department of Pathology, Baystate Medical Center (Tufts University School of Medicine), Springfield, MA, USA.
authors.forename: Sadiqa
authors.initials: S
authors.lastname: Karim
authors.forename: Colleen
authors.initials: C
authors.lastname: Hession
authors.forename: Sharon
authors.initials: S
authors.lastname: Marconi
authors.forename: David L
authors.initials: DL
authors.lastname: Gang
authors.forename: Christopher N
authors.initials: CN
authors.lastname: Otis
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D003106:Colon / Q000294:innervation / Q000473:pathology; D017615:Enteric Nervous System / Q000002:abnormalities / Q000378:metabolism*; D045888:Ganglion Cysts / Q000378:metabolism / Q000473:pathology*; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D007124:Immunoenzyme Techniques / Q000379:methods*; D009197:Myenteric Plexus / Q000378:metabolism / Q000473:pathology; D051096:Proto-Oncogene Proteins c-ret / Q000378:metabolism*; D012007:Rectum / Q000294:innervation / Q000473:pathology; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D013368:Submucous Plexus / Q000378:metabolism / Q000473:pathology
chemical_list: D015415:Biomarkers; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human