Rectal mucosal biopsy in aganglionosis and allied conditions

Ariel, Ilana; Vinograd, Itzhak; Lernau, OZ; Nissan, Shemuel; Rosenmann, E

doi:10.1016/s0046-8177(83)80179-8

Cited by 34 publications

(22 citation statements)

References 9 publications

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“…In addition, the stains may be difficult to interpret, particularly in ambiguous cases. 3,4 The demands of interpretation of this stain are well documented with false positive, [4][5][6]8,9 false negative, [18][19][20][21][22] and equivocal 19,22 results.…”

Section: Discussionmentioning

confidence: 99%

Utilization of peripherin and S-100 immunohistochemistry in the diagnosis of Hirschsprung disease

et al. 2010

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Evaluation of rectal biopsies for ganglion cells is performed for patients suspected of having Hirschsprung disease. At times, identification of ganglion cells can be difficult, especially in newborns. To assist in diagnosis, frozen tissue can be collected for acetylcholinesterase histochemical staining. At our institution, we developed a protocol using peripherin and S-100 immunostaining as an adjunct to hematoxylin and eosin (H&E) for the identification of ganglion cells. Further, at the time of frozen section, we performed Diff Quik staining to highlight ganglion cells. One hundred and thirty eight rectal biopsies submitted for evaluation of Hirschsprung disease were compiled from the archives of the Medical College of Georgia from 2002 to 2009. Initial evaluation consisted of eight levels of H&E-stained slides and two unstained slides each for immunostaining with peripherin and S-100. If on initial evaluation, ganglion cells were not identified, additional H&E and peripherin immunostains were performed. Peripherin immunostaining was unequivocally identified in the cytoplasm of ganglion cells of patients at all ages. Of the 136 patients with diagnostic biopsies, 80% had ganglion cells. Of these, 93% of cases were diagnosed on the original eight levels. Twenty-seven cases were devoid of ganglion cells, and of these, 81% showed submucosal neural hypertrophy on S-100 staining. Twenty-six patients had confirmed aganglionic segments at the time of colonic resection. One patient had colostomy only. A total of 54 frozen sections were performed on 25 patients over this same period of time. Diff Quick staining was found to be very useful. In this study, our protocol proved to be very sensitive, specific, and efficient for the diagnosis of Hirschsprung disease.

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Section: Discussionmentioning

confidence: 99%

Utilization of peripherin and S-100 immunohistochemistry in the diagnosis of Hirschsprung disease

et al. 2010

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“…and instruments [11,12] have been advocated to maximize the adequacy of rectal biopsies, which are beyond the scope of this article; nevertheless, the pieces of tissue obtained should meet certain minimum standards as to size and number. Most publications [4,6,13] specify that ideally, any rectal biopsy measure 2-3 mm in diameter and 1 mm deep with equal amounts of mucosa and submucosa [6] (Fig. 1).…”

Section: Obtaining and Processing Rectal Biopsiesmentioning

confidence: 99%

“…Clearly, in this regard, serial section examination is requisite [4,6] as it is not unusual for groups of sections devoid of ganglion cells to be followed by deeper sections containing ganglion cells in the same specimen. The actual number of sections to be examined in an adequate-sized specimen before ganglion cells are detected has been variously estimated at 15 to 50 sections [3,6,13] by many authors; others [4,14] have advocated that hundreds of sections (200-400) need to be performed to adequately examine a biopsy for ganglion cell presence or absence. The ''happy median'' rule of thumb that can be followed is that it may take up to 100 or more sections to find ganglion cells in a normal individual in an adequate rectal biopsy [1,2].…”

Section: Obtaining and Processing Rectal Biopsiesmentioning

confidence: 99%

“…Ganglion cells may remain immature to some extent for the first year of life [16]. In neonates, especially premature ones, the immature ganglion cells occur in neural units; the immature ganglia have smaller and darker nuclei with less conspicuous nucleoli and eccentric, pear-shaped, vacuolated cytoplasm [4] and are arranged in a horseshoe pattern around central pale vacuolated neuropil [6] associated with nerve twigs (Fig. 4).…”

Section: Morphologic Pitfallsmentioning

confidence: 99%

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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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“…Normally innervated intestinal mucosa does not generally stain for AChE [1,2,101], and it is generally accepted that the histological presence of coarse refractile AChEstaining neurofibrils in the presence of aganglionosis of the interplexuses confirms the diagnosis of HSCR [64,65] (Fig. 1).…”

Section: Introductionmentioning

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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Rectal mucosal biopsy in aganglionosis and allied conditions

Cited by 34 publications

References 9 publications

Utilization of peripherin and S-100 immunohistochemistry in the diagnosis of Hirschsprung disease

Utilization of peripherin and S-100 immunohistochemistry in the diagnosis of Hirschsprung disease

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

Acetylcholinesterase in Hirschsprung?s disease

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