2012, Number 5
Acta Pediatr Mex 2012; 33 (5)
Hirschsprung disease: Evaluation of calretinin and S-100 as ancillary methods for the diagnosis of aganglionosis in rectal biopsies
Torre L, Santos K
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Rectal biopsy and its histopathologic study with hematoxylin and eosin (HE) is the gold standard for Hirschsprung disease
(HD) diagnosis. However, this procedure is a common challenge and wrong diagnoses arise when an inadequate rectal biopsy or inaccurate
histological process and/or examination are made. Recently, to increase the diagnostic accuracy of HD, an ancillary immunohistochemistry
(IHQ) test with calretinin has been used. The aim of this study was to establish the concordance, sensibility and specificity of calretinin in
our laboratory to diagnose aganglionosis.
Twelve rectal biopsies of patients admitted because suspected HD were included. The histologic study was done observing fifty
sections stained with HE and diagnoses were: eight HD (aganglionic) and four idiopathic constipated (normoganglionic) patients. These
biopsies were re-evaluated blindly and independently by three pathologists. S-100 and calretinin IHQ stains were added for this study. The
analysis of the results was performed with the SPSS 19.0. The concordance was established with kappa test.
The global kappa showed that calretinin had a perfect concordance and was statistically significant (p=‹0.0001) being better
than HE (p=0.01) and PS100 (p=0.12).
HE is the stain that should be used in the study of rectal biopsies to observe ganglion cells. Calretinin is a good ancillary
method that can be used for pathologists, it showed great sensibility and specificity and a perfect concordance between observers.
Knowles CH, De Giorgio R, Kapur RP. The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group. Gut 2010;59:882-7.
Lorijn F, Kremer LC, Reitsma JB, Benninga MA. Diagnostic Test in Hirschsprung Disease: A Systematic Review. J Pediatr Gastroenterol Nutr 2006;42:496-505.
Martucciello G, Pini PA, Puri P. Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: A report from the fourth International Symposium on Hirschsprung´s disease and related neurocristophathies. J Pediatr Surg 2005;40:1527-31.
De la Torre L. Enfermedad de Hirschsprung. Mitos y realidades a 120 años de su descripción. Acta Pediatr Mex 2008;29:139-46.
Ridaura SC. Problemas en el diagnóstico histopatológico de la enfermedad de Hirschsprung. Acta Pediatr Mex 2003;24:166-71.
Reyes-Múgica M. Hirschsprung Disease. Path Case Rev 2000;5:51-9.
Holland SK, Ramalingam P, Podolsky RH, Reid-Nicholson MD, Lee JR. Calretinin immunostaining as an adjunct in the diagnosis of Hirschsprung disease. Ann Diagn Pathol 2011;15:323-8.
Holland SK, Hessler RB, Reid-Nicholson MD, Ramalingman P, Lee JR. Utilization of peripherin and S-100 immunohistochemistry in the diagnosis of Hirschsprung disease. Mod Pathol 2010;23:1173-9.
Barshack I, Fridman E, Goldberg I, Chowers Y, Kopolovic J, The loss of calretinin expression indicates aganglionosis in Hirschsprung’s disease.J Clin Pathol 2004; 57:712-6.
Kapur RP, Reed RC, Finn LS, Patterson K, Johanson J, Rutledge JC. Calretinin Immunohistochemistry versus Acetylcholinesterase Histochemistry in the Evaluation of Suction Rectal Biopsies for Hirschsprung Disease. Pediatr Dev Pathol 2009;12:6-15.
Kapur R. Can We Stop Looking? Inmunohistochemistry and the Diagnosis of Hirschsprung Disease. Am J Clin Pathol 2006;126:9-12.
Guinard-Samuel VS, Bonnard A, De Lagausie P, Philippe- Chomette P, Alberti C, El Ghoneimi A, et al. Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprug disease. Mod Pathol 2009;22:1379-84.
Sun C-CJ, Caniano DA, Hill JL. Intestinal aganglionosis: a histologic and acetylcholinesterase histochemical study. Pediatr Pathol 1987;7:421-35.