Full-thickness rectal biopsy in children suspicious for Hirschsprung's disease is safe and yields a low number of insufficient biopsies

Bjørn, Niels; Rasmussen, Lars Melholt; Qvist, Niels; Detlefsen, Sönke; Ellebæk, Mark Bremholm

doi:10.1016/j.jpedsurg.2018.01.005

Cited by 19 publications

(10 citation statements)

References 19 publications

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“…Rectal biopsy taken under general anaesthesia 2cm above dentate line with thickness 2-3mm from the posterior aspect of rectum (2-3 biopsies taken per time), hemostasis achieved by electrocauterization and suturing the defect with previously placed traction absorbable suture. 13 All specimens fixed in 10% neutral buffered formalin were sent to Pathology Department, Faculty of Medicine, Menoufia University for routine processing and preparation of H&E staining slides for routine assessment, at least 50 sections are evaluated for the presence of ganglion cells. 9 Rectal biopsies are classified into adequate and inadequate.…”

Section: Rectal Biopsymentioning

confidence: 99%

“…6 Calretinin immunohistochemical stain accurately identify ganglions through staining nucleus, cytoplasm and some nerve fiber, and so it's used as additional diagnostic tool for HD. 13 Immunostaining of synaptophysin after formalin fixation may be used to identify hyperplasia of nerve fibers and stains cytoplasm of ganglion cells in non-HD specimens. It could be useful to demonstrate abnormalities of enteric innervation in rectal biopsies performed for suspected Hirschsprung's disease in the absence of acetylcholinesterase staining on frozen sections.…”

Section: Introductionmentioning

confidence: 99%

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Comparative study between use of calretinin and synaptophysin immunostaining in diagnosis of Hirschsprung disease

et al. 2019

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Background: Hirschsprung disease (HD) is diagnosed by absence of ganglion cells in rectal biopsy. In some cases, standard methods fail to diagnose agangliosis. The aim of this study is to assess the diagnostic value of immunohistochemistry (IHC) of calretinin and synaptophysin compared to standard methods.Methods: This prospective cross section study was conducted in Menoufia University hospitals, Egypt spanning the period between October 2017 to December 2018. Rectal biopsies of the clinically suspected HD patients stained with calretinin and synaptophysin and their results compared to the standard hematoxylin and eosin (H&E) stained sections.Results: A total of 30 patients aged from 3 days to 2 years with a male to female ratio 11:4 were examined for rectal biopsies. Sections of 9 cases were diagnosed HD. In inadequate specimens, sensitivity and specificity of calretinin and synpatophysin (100%, 80%) and (100%, 85.71%) respectively were superior to the sensitivity (40%) and specificity (14%) of H&E. However, in adequate specimens, results of H&E, calretinin and synaptophysin were the same.Conclusions: Immunohistochemical expression of calretinin and synaptophysin were conclusive, diagnostic and superior to the results of H&E stained section in inadequate. However, in adequate specimens calretinin and synaptophysin were consistent and confirmatory to the results of H&E sections.

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Section: Rectal Biopsymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Comparative study between use of calretinin and synaptophysin immunostaining in diagnosis of Hirschsprung disease

et al. 2019

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“…2 In another retrospective study of full-thickness rectal biopsies from 555 patients, aganglionosis was found in 12.1% and normoganglionosis in 87.9%. 33 In the current series, all but one normoganglionic case were managed conservatively and did well and all aganglionic cases had aganglionic rectum confirmed histopathologically after pull-through. In other words, in 2-ARL cases, normoganglionosis and aganglionosis were diagnosed with 100% accuracy with a first level biopsy and the routinely performed second level biopsy just confirmed the first level biopsy result, and in 1-ARL cases, a second level biopsy was only required to determine the type of hypoganglionosis present (Figure 4).…”

Section: Discussionmentioning

confidence: 57%

Biopsy Diagnosis of Hirschsprung's Disease Using a Single Excisional Biopsy Based on the Anorectal Line

et al. 2023

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Introduction: A biopsy protocol for diagnosing Hirschsprung’s disease (HD) in children using the anorectal line (ARL). Materials and Methods: The ARL was adopted for diagnosing HD in 2016 using two excisional submucosal rectal biopsies performed at different levels, sequentially; the first just above the ARL and the second, further proximal (2-ARL). Currently, only the first level biopsy is performed (1-ARL) and examined intraoperatively. Management was observation if normoganglionic, pull-through if aganglionic, and a second level biopsy if hypoganglionic. Hypoganglionosis was considered physiologic if the second level biopsy was normoganglionic and pathologic if hypoganglionic. Colon caliber change and bowel obstructive symptoms reflect the severity of hypoganglionosis. Results: For 2-ARL (n=54), results were: normoganglionosis (n=31/54; 57.4%), aganglionosis (n=19/54; 35.2%), and hypoganglionosis (n=4/54; 7.4%); physiologic (n=3/54; 5.6%) and pathologic (n=1/54; 1.9%). Normoganglionosis and aganglionosis were always duplicated in 2-ARL (kappa=1.0). For 1-ARL (n=36), results were: normoganglionosis (n=17/36; 47.2%), aganglionosis (n=17/36; 47.2%), and hypoganglionosis (n=2/36; 5.6%). Second level biopsies were normoganglionic (physiologic: n=1) and hypoganglionic (pathologic: n=1). All normoganglionic cases, except one, resolved conservatively. All aganglionic cases had pull-through with HD confirmed on histopathology. Both pathologic hypoganglionic cases had caliber change and severe obstructive symptoms as definitive indications for pull-through with hypoganglionosis of the entire rectum confirmed on histopathology. Physiologic hypoganglionic cases were observed and currently have regular defecation. Conclusions: Because the ARL is an objective functional, neurologic, and anatomic demarcation, normoganglionosis and aganglionosis can be diagnosed accurately with a single excisional biopsy. Only hypoganglionosis requires a second level biopsy.

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“…In present study, we did not evaluate the usefulness of the immunostaining using calretinin, S‐100, and PGP 9.5; however, these immunostainings may be reportedly recommended when concurrent AChE histochemistry and HE staining fail to prove a definitive diagnosis 20,38 . If these procedures do not confirm the definitive diagnosis, a FTB is recommended, as was performed in our TCA case 39 . If a clinical diagnosis still cannot be made, a FTB under laparotomy may ultimately be required.…”

Section: Discussionmentioning

confidence: 81%

“…20,38 If these procedures do not confirm the definitive diagnosis, a FTB is recommended, as was performed in our TCA case. 39 If a clinical diagnosis still cannot be made, a FTB under laparotomy may ultimately be required.…”

Section: Discussionmentioning

confidence: 99%

Reevaluation of concurrent acetylcholinesterase and hematoxylin and eosin staining for Hirschsprung’s disease

Yoshimaru

Matsuura

Yanagi

et al. 2021

Pediatrics International

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Background Acetylcholinesterase (AChE) histochemistry has been widely performed for the histopathological diagnosis of Hirschsprung’s disease (HD). However, we occasionally come across diagnostic difficulties. We conducted concurrent AChE histochemistry and hematoxylin and eosin (HE) staining to validate the ancillary value of this technique. Methods Of 177 patients diagnosed using AChE histochemistry from January 2014 to December 2016, 90 patients underwent formalin‐fixed paraffin‐embedded HE staining. The histopathological findings and diagnostic abilities were investigated and compared retrospectively. Results The sensitivity, specificity, accuracy, and kappa index of AChE histochemistry and HE staining were 94.1%, 100%, 98.9%, and 0.964 and 76.5%, 84.9%, 83.3%, and 0.530, respectively. The specificity, accuracy and kappa index of AChE histochemistry were significantly higher than those of HE staining (P < 0.001, <0.001, and <0.05). Hematoxylin and eosin staining supported the suspected diagnosis of total colon aganglionosis at the initial biopsy; furthermore, HE staining helped confirm the distinct shape of ganglion cells and hypertrophic nerve bundles. Conclusion We re‐confirmed that AChE histochemistry is an excellent method for diagnosing HD. Although the diagnostic ability of HE staining is limited, it has acceptable utility as an ancillary method. Thus, AChE staining is a useful test and it should be performed together with HE staining.

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Full-thickness rectal biopsy in children suspicious for Hirschsprung's disease is safe and yields a low number of insufficient biopsies

Abstract: III.

Cited by 19 publications

References 19 publications

Comparative study between use of calretinin and synaptophysin immunostaining in diagnosis of Hirschsprung disease

Comparative study between use of calretinin and synaptophysin immunostaining in diagnosis of Hirschsprung disease

Biopsy Diagnosis of Hirschsprung's Disease Using a Single Excisional Biopsy Based on the Anorectal Line

Reevaluation of concurrent acetylcholinesterase and hematoxylin and eosin staining for Hirschsprung’s disease

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