Diagnosis of Hirschsprung Disease Using the Rectal Biopsy: Multi-institutional Survey

Abstract

Diagnostic pathologists remain uncomfortable with the diagnosis of Hirschsprung disease (HD) via rectal (mucosal/submucosal) biopsy and with performance and interpretation of the associated acetylcholinesterase (AChE) assay. This report details the different diagnostic approaches taken by four major pediatric institutions-Children's Hospital, Columbus, OH; Children's Hospital Medical Center, Cincinnati, OH; Children's Hospital, Pittsburgh, PA; Children's Hospital, Los Angeles, CA-in confirming or excluding the presence of HD. The Columbus approach emphasizes serial morphologic examination of rectal biopsies, while Cincinnati emphasizes the primary diagnostic utility of the AChE stain. Pittsburgh and Los Angeles emphasize a detailed gross and microscopic analysis of rectal biopsies to detect both conventional HD and its more rare subtypes. The diagnostic approaches of these four institutions can be used on a complementary basis to the advantage of the general diagnostic pathologist, especially in HD cases with subtle clinical presentations. The need for careful and continual communication between the clinician and pathologist in diagnosing or excluding the presence of HD is imperative.

Evaluation of calretinin immunohistochemistry as an additional tool in confirming the diagnosis of Hirschsprung disease

“…The diagnostic approaches vary among institutions as there are no established strict practice parameters [20]. Some centers base the diagnosis mainly on morphologic examination of serial sections of rectal biopsy specimens stained with HE; others use histochemical stains on frozen sections as their primary diagnostic tool, and still others rely on AChE as an adjunct to routine histology [21].…”

Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation

“…Pathologists need to serially section the biopsy specimen to adequately examine it for ganglion cells' presence or absence, meaning that they need an average of 100 sections per specimen [4,14]. Such histopathologic examinations can easily consume 1 h of the pathologist's time [14]. In our institution, H&E staining helps us to evaluate the gross histology of the rectum, while AChE and NADPH-d histochemical stainings specifically help to evaluate nerve structures.…”

“…Moreover, using only H&E staining is more demanding and time consuming. Pathologists need to serially section the biopsy specimen to adequately examine it for ganglion cells' presence or absence, meaning that they need an average of 100 sections per specimen [4,14]. Such histopathologic examinations can easily consume 1 h of the pathologist's time [14].…”

“…A rectal suction biopsy (RSB) is currently the gold standard in the diagnosis of intestinal dysganglionosis especially if they are stained with histochemical stainings [2,13]. Histochemical staining of RSB is superior to convetional H&E and immunohistochemistry in the diagnosis of bowel motility disorders [14]. This study describes our 13 years experience with RSB stained with hematoxylin and eosin (H&E), acetylcholinesterase (AChE) and nicotinamide adenine dinucleotide phosphate diaphorase (NADPH-d) as the first investigation in patients presenting with chronic constipation.…”

Utilização da biópsia de mucosa e submucosa retal para o diagnóstico da Moléstia de Hirschsprung

“…Na investigação dos pacientes com suspeita de MH, o estudo histopatológico pode ser realizado pela análise de um fragmento de reto, tendo em vista que nas diferentes variedades clinicas da doença o reto deverá estar afetado. Esse material deverá ser obtido a 1,5 cm acima da linha pectínea 30,31,32,33 .…”