Histochemical staining for intestinal dysganglionosis: over 30 years experience with more than 1,500 biopsies

Montedónico, Sandra; Cáceres, P Arenales; Muñoz, Núria Soriano; Yáñez, Hugo Heinike; Ramírez, Ricardo; Fadda, B.

doi:10.1007/s00383-010-2849-1

Cited by 27 publications

(15 citation statements)

References 39 publications

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“…Despite these comprehensive publications, the use of inaccurate terminology and vague diagnostic criteria remain common (9). In the authors' experience, inappropriate diagnoses such as hypoganglionosis and intestinal neuronal dysplasia (IND) are still being made based on symptoms and uncertain histomorphological findings, thereby perpetuating diagnostic confusion and uncertainty.…”

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confidence: 99%

A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders

Schäppi

Staiano

Milla

et al. 2013

J. pediatr. gastroenterol. nutr.

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Objective: Primary gastrointestinal neuropathies are a heterogeneous group of enteric nervous system (ENS) disorders that continue to cause difficulties in diagnosis and histological interpretation. Recently, an international working group published guidelines for histological techniques and reporting, along with a classification of gastrointestinal neuromuscular pathology. The aim of this article was to review and summarize the key issues for pediatric gastroenterologists on the diagnostic workup of congenital ENS disorders. In addition, we provide further commentary on the continuing controversies in the field. Results: Although the diagnostic criteria for Hirschsprung disease are well established, those for other forms of dysganglionosis remain ill-defined. Appropriate tissue sampling, handling, and expert interpretation are crucial to maximize diagnostic accuracy and reduce interobserver variability. The absence of validated age-related normal values for neuronal density, along with the lack of correlation between clinical and histological findings, result in significant diagnostic uncertainties while diagnosing quantitative aberrations such as hypoganglionosis or ultrashort Hirschsprung disease. Intestinal neuronal dysplasia remains a histological description of unclear significance. Conclusions:The evaluation of cellular quantitative or qualitative abnormalities of the ENS for clinical diagnosis remains complex. Such analysis should be carried out in laboratories that have the necessary expertise and access to their own validated reference values.

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confidence: 99%

A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders

Schäppi

Staiano

Milla

et al. 2013

J. pediatr. gastroenterol. nutr.

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“…To our knowledge, this study is the first to report the localization of BChE to the cytoplasm of human colonic epithelial crypt cells, as in rat small intestine . We chose not to localize AChE, as AChE previously has been stained weakly in the surface epithelial cells of normal human colonic mucosa …”

Section: Discussionmentioning

confidence: 99%

Acetylcholine‐related proteins in non‐neoplastic appearing colonic mucosa from patients with colorectal neoplasia

Damm

Jensen

Mahmood

et al. 2017

Molecular Carcinogenesis

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The pathogenesis of colorectal neoplasia (CRN) has been associated with altered non-neuronal acetylcholine (ACh) metabolism. The aim of this study was to characterize expression, function, and cellular location of ACh-related proteins in biopsies obtained from endoscopic normal-appearing sigmoid colon in patients with and without CRN. Messenger-RNA (mRNA) levels of 17 ACh-related proteins were quantified by rt-qPCR. Functional responses to ACh, measured as electrogenic transepithelial short circuit current (SCC), were recorded using the Ussing chamber technique. Finally, cellular localization of choline transporter-like proteins (CTLs) and butyryl-cholinesterase enzyme (BChE) was determined by immunohistochemistry. mRNA expression of CTL1 and CTL4 was increased in patients with CRN (P = 0.002 and P = 0.04, respectively). In functional experiments, baseline SCC was increased in CRN patients. ACh induced rapid biphasic changes in SCC. An initial decreasing phase was observed in the minority of CRN patients versus the majority of controls (25% vs 69%, respectively, P = 0.031). For the second increasing phase of SCC, data indicated ACh-activation of two receptors. For both parts of the biphasic response, the half maximal effective concentration and maximal responses showed no difference between patient groups. Immunohistochemistry demonstrated CTL1, 3 and 4 and BChE to be localized to colonic crypt cells. We conclude that CRN is associated with increased expression of CTL1 and CTL4, augmented basal prostaglandin-dependent secretion, and altered functional channel response to ACh in human endoscopic normal-appearing colonic mucosa. The immunohistochemical findings support CTL1, CTL3, CTL4, and BChE to be involved in non-neuronal mucosal ACh metabolism.

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“…Although alternative diagnostic tests like anorectal manometer and full-thickness bowel biopsies may be carried out, the histochemical staining is still the gold standard diagnostic test 1 …”

Section: Discussionmentioning

confidence: 99%

“…Intestinal dysganglionosis is a group of anomalies of the enteric nervous system including aganglionosis, hypoganglionosis, intestinal neuronal dysplasia (IND) and ganglioneuromatosis 1 .…”

Section: Introductionmentioning

confidence: 99%