title: Immunohistochemical panel for the diagnosis of Hirschsprung's disease using antibodies to MAP2, calretinin, GLUT1 and S100.
abstract: OBJECTIVE
  The diagnosis of Hirschsprung's disease is currently based on the identification of aganglionosis and the presence of an increase in acetylcholinesterase-positive hypertrophic nerve fibres in the large bowel submucosa. However, acetylcholinesterase staining is laborious and requires a skilled technician. The aim of this study was to identify a method for diagnosing Hirschsprung's disease reliably using an immunohistochemical panel of recently proposed markers.
  
  
  RESULTS
  Sixty-nine specimens from 37 patients were evaluated. MAP2 and calretinin antibodies were shown to stain ganglia reliably in the submucosal and myenteric plexuses of normal tissue. By contrast, reduced staining of ganglia was observed in patients with Hirschsprung's disease. Staining for GLUT1 and S100 was used to evaluate the number and thickness of nerve fibres. Gain of GLUT1 and S100 expression was in contrast to the loss of calretinin and MAP2. Hypertrophic submucosal nerve fibres in Hirschsprung's disease develop a perineurium with a ring-like GLUT1 staining pattern similar in size and intensity to that observed in deeper subserosal tissue.
  
  
  CONCLUSIONS
  The diagnosis of Hirschsprung's disease using immunohistochemical panels could be as accurate as with conventional frozen section techniques. In particular, the use of a combination of markers for ganglia and hypertrophic nerve fibres highlighting a prominent perineurium in Hirschsprung's disease could be an alternative method.
authors.affiliation: Institute of Pathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Centre Erlangen - Metropolitan Region Nuremberg, Erlangen, Germany.
authors.forename: Leonhard
authors.initials: L
authors.lastname: Bachmann
authors.forename: Manuel
authors.initials: M
authors.lastname: Besendörfer
authors.forename: Roman
authors.initials: R
authors.lastname: Carbon
authors.forename: Philipp
authors.initials: P
authors.lastname: Lux
authors.forename: Abbas
authors.initials: A
authors.lastname: Agaimy
authors.forename: Arndt
authors.initials: A
authors.lastname: Hartmann
authors.forename: Tilman T
authors.initials: TT
authors.lastname: Rau
mesh_terms: D000293:Adolescent; D000906:Antibodies / Q000276:immunology; D015415:Biomarkers / Q000032:analysis*; D064032:Calbindin 2 / Q000032:analysis / Q000096:biosynthesis; D002648:Child; D002675:Child, Preschool; D005260:Female; D051272:Glucose Transporter Type 1 / Q000032:analysis / Q000096:biosynthesis; D006627:Hirschsprung Disease / Q000175:diagnosis*; D006801:Humans; D007090:Image Interpretation, Computer-Assisted; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008869:Microtubule-Associated Proteins / Q000032:analysis / Q000096:biosynthesis; D009418:S100 Proteins / Q000032:analysis / Q000096:biosynthesis
chemical_list: D000906:Antibodies; D015415:Biomarkers; C576764:CALB2 protein, human; D064032:Calbindin 2; D051272:Glucose Transporter Type 1; C489788:MAP2 protein, human; D008869:Microtubule-Associated Proteins; D009418:S100 Proteins
keywords: Glut1; Hirschsprung's disease; Map2; S100; calretinin