Effectiveness of calretinin and role of age in the diagnosis of Hirschsprung disease

Jorge, Irene de Haro; Bellver, Pedro Palazón; Masip, V. Julià; García, Laura Saura; Ribalta, Teresa; Cuadras, Daniel; Tarrado, Xavier

doi:10.1007/s00383-016-3912-3

Cited by 8 publications

(8 citation statements)

References 24 publications

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“…When 9 of the biopsies obtained from 24 patients included in the study, which were considered as insufficient material, were not included in the evaluation, the specificity and sensitivity of SRB from 15 patients was found to be 100%. It has been reported that the sensitivity of SRB in the diagnosis of HD is 88-93% and its specificity is 95-99% (22,23,(28)(29)(30). In the study of Nicole, no false negative or false positive results were reported, similar to our study (28).…”

Section: Discussionsupporting

confidence: 89%

“…When the studies in the literature are examined, different results draw attention when the diagnostic feature of SRB according to age groups is evaluated. While some studies reported that there was no difference in the diagnostic yield of SRB between age groups, several studies reported that insufficiency rate was higher in infants younger than 1.5 months compared to infants older than 1.5 months (5,22). In another study, it was reported that the tissue adequacy rate was higher in babies older than one year compared to babies older than one year old (25).…”

Section: Discussionmentioning

confidence: 98%

“…Insufficient sampling rates have been reported at different rates in several studies in the literature. Although debates on this issue continue, studies reported insufficient sampling rates at the range between 11-50% (16)(17)(18)(19)(20)(21)(22). The main difference between these studies is the design of the biopsy procedure that has taken with different procedures.…”

Section: Discussionmentioning

confidence: 99%

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The Effectiveness of Rectal Aspiration Biopsy in the Diagnosis of Hirschsprung's Disease

Bilir¹,

Öztan

Diniz

et al. 2021

Preprint

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Purpose: In this prospective cross secitonal study, we aimed to investigate the adequacy, sensivity and specifity of rectal aspiration biopsy samples as the standart diagnosis of patients suspected HD for the histopathological diagnosis Material and methods: The study was performed between november 2016 and march 2018. We prospectively included 24 patients aged between 0-3 years that suspicious with HD to the study. After Rectosigmoid index (RSI) were calculated according to the contrast enhanced colon graphy, Patients who RSI<1 were performed rectal aspiration biopsy with the suspicious of HD. All patients’ clinical features, treatment options, complications, laboratory results and radiological findings were recorded for further analyses. Biopsy specimens were evaluated by the specialist patholog and findings were recorded. Results: There were no ganglion on the specimens of rectal aspiration biopsy in 10(%41.6) patients and diagnosed as HD. Ganglion cell was detected in 5(%20.8) patients and diagnosis of HD was excluded. Inadequate or suspicious biopsy specimens for histopathological evaluation was observed in 9(%37.5) patients. If the biopsy volume was greater than 4 mm3, sensitivity was 80% and specificity was 66.67% in diagnosis of HH (AUC = 0.789); If the Submucosa / Mucosa ratio is greater than 0.75 or the submucosa is greater than 0.42, the sensitivity and the specificity were 86.67% and 66.67%, respectively. Conclusion: In this prospective cross-sectional study, we demonstrated that rectal aspiration biopsy in the diagnosis of HD is easily feasible, safe, has higher sensitivity and specificity, and lower complication rates.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

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The Effectiveness of Rectal Aspiration Biopsy in the Diagnosis of Hirschsprung's Disease

Bilir¹,

Öztan

Diniz

et al. 2021

Preprint

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“…Calretinin immunohistochemistry was introduced in 2009 and replaced acetylcholinesterase histochemistry in many laboratories, where the standard approach has become to review both hematoxylin-and-eosin (H&E)stained paraffin sections and at least 1 calretinin-immunostained section from the same biopsy. 5,54 In contrast with acetylcholinesterase histochemistry, calretinin-positive mucosal innervation is typically absent in the aganglionic rectal biopsies and, for most patients, correlates extremely well with other diagnostic findings of HSCR. Routine use of calretinin immunohistochemistry has lowered the threshold for how much submucosal sampling is considered adequate and has probably led to diagnoses that would have not been possible with H&E-stained sections alone.…”

Section: Recent Changes In the Diagnostic Approach To Hscr May Increamentioning

confidence: 96%

Are We Underdiagnosing Hirschsprung Disease?

2019

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Hirschsprung disease (HSCR) is conventionally defined as aganglionosis of the distal rectum and a variable length of proximal contiguous bowel with a transition zone of ganglionic, but neuroanatomically abnormal, bowel located immediately upstream. Recent improvement in our understanding of the pathology and genetics of HSCR and relevant animal models indicates highly variable expressivity. The spectrum of intestinal neuropathology includes patients with very short-segment aganglionosis, limited to the distal 1 to 2 cm of the rectum, and possibly patients with no true aganglionic segment, but nonphysiological transition zone pathology in their distal rectums. The presence or absence of submucosal ganglion cells in a rectal biopsy is not sufficient to exclude these patients, in whom submucosal nerve hypertrophy and/or abnormal cholinergic mucosal innervation may be the only diagnostic clues. In addition, diagnosis or exclusion of HSCR by rectal biopsy now relies in part on mucosal patterns of calretinin immunohistochemistry, with less emphasis on submucosal tissue adequacy and assessment of cholinergic innervation. These recent trends in the surgical pathology approach to rectal biopsies may miss patients at the phenotypically milder end of the malformation spectrum, with profound implications for subsequent management, prognosis, and genetic counseling.

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“…In many laboratories, !50 hematoxylin-and-eosin (H&E)stained sections are routinely evaluated, and it is not uncommon to exhaust paraffin-embedded tissue in an effort to exclude a ganglion cell. 1 Reported rates of inconclusive biopsy results range from 11% to 38%, with ''inadequate submucosa'' cited as a frequent explanation (see de Haro Jorge et al 2 and references therein). Numerous ancillary histological methods have been reported to facilitate diagnosis, most of which rely on immunohistochemical resolution of ganglion cells.…”

Section: Introductionmentioning

confidence: 99%

Choline Transporter Immunohistochemistry

et al. 2017

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Acetylcholinesterase enzymatic histochemistry (AChE EHC), which highlights abnormal cholinergic nerves in the mucosa of aganglionic bowel, has been used for decades to evaluate rectal biopsies for Hirschsprung disease (HSCR). While useful diagnostically, AChE EHC is not compatible with conventional formalin-fixed and paraffin-embedded (FFPE) tissues and is not widely available. The choline transporter (ChT) is a putative alternative marker of cholinergic nerves. ChT immunohistochemistry (IHC) was investigated using FFPE biopsies and resections from patients with confirmed HSCR, as well as appropriate non-HSCR controls. ChT immunostaining was effective at identifying cases with HSCR and qualitatively similar to AChE EHC on frozen section. Among 3 pathologists, the diagnostic positive and negative predictive values based on ChT IHC ranged from 0.84-0.94 and 0.85-0.89, respectively, with good inter-observer agreement (Cohen kappa = 0.70-0.90). ChT IHC was useful in unusual scenarios in which calretinin (CR) IHC failed to correctly identify patients with HSCR. In 10 cases of short-segment HSCR, abnormal ChT+ mucosal innervation was present through the entire aganglionic segment and into portions of the TZ with submucosal nerve hypertrophy. In contrast, mucosal CR IHC was retained in the TZ and adjacent aganglionic bowel, which could lead to misinterpretation of a biopsy as ganglionic bowel. Indeed, 6 such patients were identified with paradoxical CR-positive mucosal innervation in their diagnostic biopsies. ChT IHC was interpreted as unequivocal HSCR in these cases, and HSCR was confirmed on resection. In summary, ChT IHC in FFPE tissue demonstrates high positive and negative predictive values for HSCR, is superior to CR IHC in a subset of cases, and can be incorporated into routine practice without the need for specialized techniques.

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Effectiveness of calretinin and role of age in the diagnosis of Hirschsprung disease

Cited by 8 publications

References 24 publications

The Effectiveness of Rectal Aspiration Biopsy in the Diagnosis of Hirschsprung's Disease

The Effectiveness of Rectal Aspiration Biopsy in the Diagnosis of Hirschsprung's Disease

Are We Underdiagnosing Hirschsprung Disease?

Choline Transporter Immunohistochemistry

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