[673] Hirschsprung's Disease and Calretinin in Inadequate Biopsies

David Hernandez Gonzalo, Thomas Plesec. Cleveland Clinic, Cleveland, OH

Background: Inadequate biopsies represent up to 20% of all rectal suction biopsies (RSBs) taken in the evaluation of Hirschsprung's disease (HD). Inadequate biopsies are generally either too superficial (insufficient submucosa to reliably confirm lack of ganglion cells) or too distal (taken from the 1-2 cm “physiologic” aganglionic zone). Calretinin immunohistochemistry highlights intrinsic nerves in the mucosa only in ganglionated bowel and has been shown to discriminate aganglionic rectum from normal rectum in adequate biopsy as well as resection specimens very reliably. However, the use of calretinin in inadequate biopsies is less well-characterized and to our knowledge, this is the first study that specifically targets inadequate biopsies in HD and the use of calretinin.
Design: A retrospective review of all RSBs taken in the evaluation of HD from 1999-2009 was performed. Those biopsies deemed inadequate for evaluation on the original pathology report were evaluated. Biopsies containing columnar mucosa with lamina propria and muscularis mucosae were included and stained for calretinin. The interpretation of the calretinin immunostains was performed independently and blinded to clinical outcome. Outcomes were determined by clinical and/or pathologic follow-up.
Results: A total of 15 cases were identified. The patients were aged from 3 days to 16 years (6 females and 9 males). Five HD cases were present, all of which were confirmed on resection pathology, and the remaining ten cases showed no clinical evidence of HD (mean follow-up: 4 years 8 months). The calretinin results were perfectly correlated with clinical and/or pathologic outcome (p=0.0003, Fisher's exact test).

CaseAgeInadequate ReasonFollow-upCalretinin ResultCalretinin match outcome?
14 yearsSN+Yes
23 yearsDN+Yes
39 yearsD/SN++Yes
43 yearsSN+Yes
55 yearsD/SHD-Yes
68 monthsSHD-Yes
73 daysSHD-Yes
88 daysDHD-Yes
92 monthsDN+Yes
1016 yearsDN+Yes
111 yearDN++Yes
125 monthsDN+Yes
137 yearsDN++Yes
1416 yearsSHD-Yes
153 monthsDN++Yes
N=No HD, D= Too distal for diagnosis, S= Too superficial for diagnosis

Conclusions: Although confirming the lack of submucosal ganglion cells is the bedrock of HD diagnosis on RSB, many biopsies contain inadequate submucosa to be reliably assessed for ganglion cells. When an inadequate biopsy is received in pathology, calretinin stain can provide very useful information regarding the risk that the patient suffers from HD or not.
Category: Gastrointestinal

Monday, March 19, 2012 11:00 AM

Platform Session: Section D, Monday Morning


Close Window