Hirschsprung Disease and Use of Calretinin in Inadequate Rectal Suction Biopsies

From the Department of Pathology and Laboratory Medicine, Cleveland Clinic, Cleveland, Ohio.
Archives of pathology & laboratory medicine (Impact Factor: 2.88). 08/2013; 137(8):1099-102. DOI: 10.5858/arpa.2012-0220-OA
Source: PubMed

ABSTRACT Context.-Up to 17% of all rectal suction biopsies performed in the evaluation of Hirschsprung disease are considered inadequate. In most instances, inadequate biopsies contain too little submucosa or are taken within the anal transition zone. Objectives.-To examine the utility of calretinin stain in the workup of inadequate biopsies for patients with clinical suspicion of Hirschsprung disease. Design.-A retrospective analysis was conducted of all rectal suction biopsies performed in the evaluation of Hirschsprung disease during the previous 12 years that were considered "inadequate." Seventeen cases were identified, and Hirschsprung disease status was determined by clinical or surgical follow-up. Immunohistochemistry for calretinin was performed for all cases containing columnar mucosa, which were evaluated without knowledge of clinical course. Results.-All 12 patients without Hirschsprung disease had calretinin-positive nerve fibers in the lamina propria or muscularis mucosae, and all 5 patients with Hirschsprung disease had no calretinin staining of nerves. Conclusions.-In this retrospective series, calretinin immunohistochemistry correctly predicted outcome in all instances. Although the gold standard for the diagnosis of Hirschsprung disease in rectal suction biopsies remains the evaluation of ganglion cells in a hematoxylin-eosin staining with sufficient submucosa, calretinin immunohistochemistry is quite helpful in triaging further workup based on clinical suspicion.

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    ABSTRACT: The diagnosis of Hirschsprung's disease (HD) remains challenging. The identification of ganglion cells is difficult and acetycholine esterase (AChE) staining can be subject to a great variability, particularly in the neonatal period (< 8 weeks). Nerve trunks greater than 40 A mu m are considered to be predictive for HD. The aim of this study was to evaluate the usefulness of measuring nerve trunk size in the newborn with HD. Out of 292 biopsies 69 could be reanalyzed by three independent researchers. 40 A mu m was used as cutoff point for nerve trunk size. They were subdivided into three groups: (a) diagnosis of HD certain at the first biopsy, (b) no HD and (c) diagnosis of HD remains doubtful and re-biopsy taken. In 87 % of group A nerve trunk size was a parts per thousand yen40 A mu m (SD 13.8). In 84 % of group B trunk size was < 40 A mu m (SD 16.2). In group C only 60 % of the patients showed a positive correlation between final diagnosis and nerve trunk size. Using 40 A mu m as the cutoff point gave 13 % false-negative and 16 % false-positive cases. Measurement of the nerve trunk in the neonatal period does not seem to be a reliable method for detecting HD.
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