Diagnosis of Hirschsprung's Disease Excluded by Rectal Suction Biopsy

Dobbins, William O.; Bill, Alexander H.

doi:10.1056/nejm196505132721903

Cited by 101 publications

(48 citation statements)

References 13 publications

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“…The number of H&E levels per case ranged from 1 to 75 (mean, 14.1; standard deviation, 22.2). Three categories of follow-up emerged: (1) definitely not HD, confirmed by subsequent RSB with unequivocal ganglion cells (7 cases); (2) definitely HD, confirmed by surgical resection specimen (5 cases); and (3) clinically not HD, substantiated by numerous notes within the medical record without mention of persistent constipation or HD (5 cases with a follow-up ranging between 2.8 to 11.1 years; mean, 7.1 years). For all patients, absence or presence of calretinin was correlated with the pathologic or clinical follow-up.…”

Section: Resultsmentioning

confidence: 99%

“…Although clinical and radiologic correlations are important, the gold standard diagnostic test is the rectal suction biopsy (RSB). 1 In addition to hematoxylin-eosin (H&E), which is the most widely relied upon stain in evaluating RSBs, there are numerous histochemical and immunohistochemical (IHC) stains that are used by some pathologists attempting to confirm the diagnosis of HD. [2][3][4][5] Calretinin IHC offers several advantages in the workup of HD, including applicability to formalin-fixed paraffinembedded tissue and pathologists' familiarity interpreting IHC.…”

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confidence: 99%

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Hirschsprung Disease and Use of Calretinin in Inadequate Rectal Suction Biopsies

Gonzálo

Plesec

2013

Archives of Pathology &Amp; Laboratory Medicine

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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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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

Hirschsprung Disease and Use of Calretinin in Inadequate Rectal Suction Biopsies

Gonzálo

Plesec

2013

Archives of Pathology &Amp; Laboratory Medicine

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“…Following the introduction of a suction biopsy technique for the diagnosis of HSCR in the 1960s [20,76], Meier-Ruge et al suggested in 1972 [65] that the histochemical determination of AChE in the rectal suction biopsy material eliminated the problem of inadequacy of suction biopsy specimens and the presence or absence of ganglion cells in the submucosa.…”

Section: Histochemical Aspects Of Ache Staining In Hscrmentioning

confidence: 99%

Acetylcholinesterase in Hirschsprung?s disease

Moore

Johnson

2005

Ped Surgery Int

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The association between the congenital absence of colonic ganglion cells and an increased acetylcholinesterase (AChE) expression in the affected tissue is of diagnostic importance in Hirschsprung's disease (HSCR). Investigation of AChE's function in development may also help unravel some of the complex pathophysiology in HSCR. Normal nerves do not stain for AChE, but increased AChE expression is associated with the hypertrophied extrinsic nerve fibres of the aganglionic segment in HSCR. Although a high degree of histochemical diagnostic accuracy exists, results are not always uniform, and false positives and false negatives are reported. False negative results are primarily related to age, and an absence of AChE reaction does not exclude HSCR in neonates within the first 3 weeks after birth. AChE staining results may lack uniformity, resulting in a number of technical modifications that have been made to improve standardization of AChE staining. At least two distinct histological patterns are described, types A and B. The interpretation of increased AChE staining patterns in ganglionated bowel at the time of surgical pull-through remains a problem in patients with HSCR. The development of rapid staining techniques has helped to identify normal ganglionated bowel with greater certainty. The presence of fine AChE neurofibrils in the ganglionated segment has contributed to the debate surrounding intestinal neuronal dysplasia. Quantitative assay of cholinesterase activity confirms the pattern of histochemical staining. AChE is particularly increased in relation to butrylcholinesterase, with one molecular form, the G4 tetrameric form, predominating. It is likely that the raised levels of AChE in aganglionic tissue are the transcriptional consequence of the abnormalities in signalling molecules that characterize HSCR. Evidence suggests that this AChE is functioning in a nonenzymatic capacity to promote cell adhesion and differentiation and that the hypertrophied nerves and neurofibrils may be the result of this increased AChE expression.

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“…The methodology outlined in Table 1 should facilitate such an examination in a stepwise fashion. It should be noted that such histopathologic examinations as described above can easily consume 30-60 min of the pathologist's time [15] as one is trying to define a disease (HD) by the absence of a finding (a ganglion cell). Evaluation of both a well-performed AChE stain [3] and identification of associated neural hypertrophy [8] can both facilitate diagnosis of HD, as will be addressed later in this paper.…”

Section: Obtaining and Processing Rectal Biopsiesmentioning

confidence: 99%

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

Qualman¹,

Jaffe

Bove

et al. 1999

Pediatr Dev Pathol

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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.

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Diagnosis of Hirschsprung's Disease Excluded by Rectal Suction Biopsy

Cited by 101 publications

References 13 publications

Hirschsprung Disease and Use of Calretinin in Inadequate Rectal Suction Biopsies

Hirschsprung Disease and Use of Calretinin in Inadequate Rectal Suction Biopsies

Acetylcholinesterase in Hirschsprung?s disease

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

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