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Diagnostic Roles of Calretinin in Hirschsprung Disease: A Comparison to Neuron‐Specific Enolase
حيدر فيصل غازي
Authors : Zaidoon A. Musa, Ban J. Qasim, Haider F. Ghazi, A. Wahab A. K. Al Shaikhly
Background/Aim: Diagnosis of Hirschsprung’s disease (HD) can be hard and requires good experience, principally for pathologists who infrequently encounter the disease. However, diagnosis is not always possible with hematoxylin and eosin (H and E) because staining has limitations in the identi cation of immature ganglion cells in neonates and the submucosal area. Aim: To assess the diagnostic role of calretinin immunostaining in HD in comparison to neuron‐speci c enolase. Patients and Methods: Formalin‐ xed paraf n tissue blocks of full‐thickness distal colonic and rectal biopsies for 48 patients who clinically presented with symptoms suspicious for HD were collected for the period from December 2012 to January 2016. All biopsies were already studied by routine H and E histopathological examination for the presence or absence of ganglion cells. Further con rmation of ganglion cells and nerve bers was performed by immunohistochemical study for neuron‐speci c enolase and calretinin, respectively, in a private pathology laboratory. Results: According to the histopathological assessment, cases with absent ganglionic cells were considered to be HD, which comprised 40 cases out of the total 48 cases. The mean age for HD cases was 19.43 months. The male‐to‐female ratio in HD cases was 2.34:1. All HD cases showed negative expression of calretinin in small nerve bers of the lamina propria, musularis mucosae, and submucosa, and negative expression of neuron‐speci c enolase in ganglionic cells. The sensitivity, speci city, positive predictive value, and negative predictive values for both the markers in the con rmation of diagnosis of HD were all 100%. Conclusion: Calretinin immunostaining, similar to that of neuron‐speci c enolase, is a highly sensitive and speci c diagnostic aid to histopathological examination in suspected HD.

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15/1/2017