The diagnostic value of immunohistochemistry markers in Hirschsprung disease; a systematic review and meta-analysis

Abstract

Background: immunohistochemistry (IHC) markers are employed to improve the diagnostic yield when testing for Hirschsprung disease (HSCR). Yet, a superior test has not been identified.

Objectives: we aimed to determine the diagnostic test accuracy (DTA) of IHC markers.

Methods: we conducted database search for studies reporting IHC staining on rectal biopsy investigating for HSCR. We constructed 2 × 2 contingency tables, and calculated DTA estimates in pooled and paired testing using random-effect model meta-analysis.

Results: twenty eight IHC markers from 107 studies were used to investigate for HSCR in 10891 children. In pooled analysis; calretinin sensitivity and specificity were superior to acetylcholinesterase, S100, and peripherin [98 % (CI; 0.95–0.99) & 99 % (CI; 0.97–0.99)], [94 % (CI; 0.86–0.97) & 99 % (CI; 0.96–0.99)], [92 % (CI; 0.85–0.96) & 97 % (CI; 0.89–0.99)] and [91.7 % (CI; 0.54–0.98) & 94.8 % (CI; 0.59–0.99)], respectively. In paired analysis calretinin diagnostic odds ratio was superior to hematoxylin and eosin (H&E), acetylcholinesterase and S100: [3349 (PI; 551.3–22667.2) vs 345.3 (PI; 54.9–2394.2)], [300.9 (PI; 13.3–4146.9) vs 34.6 (PI; 2.2–363.9)] and [696.9 (PI; 91.2–3401.7) vs 196.9 (PI; 29.8–890.5)], respectively. In biopsies labelled inadequate for H&E testing, calretinin specificity to rule out HSCR reached 92 % (CI; 0.288–0.998).

Conclusion: IHC provides additional diagnostic value over H&E. Calretinin appears to be, currently, a superior IHC marker. The available literature is of variable quality, cautious interpretation of the findings should be considered.

Level of Evidence: III.

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Identifiers

ORCID for Nigel J. Hall: orcid.org/0000-0001-8570-9374

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