Orbital pseudotumor can be a localized form of granulomatosis with polyangiitis as revealed by gene expression profilingReport as inadecuate




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Journal Title:

Experimental and Molecular Pathology

Volume:

Volume 99, Number 2

Publisher:

Elsevier | 2015-10-01, Pages 271-278

Type of Work:

Article | Post-print: After Peer Review

Abstract: Biopsies and ANCA testing for limited forms of granulomatosis with polyangiitis GPA are frequently non-diagnostic. We characterized gene expression in GPA and other causes of orbital inflammation. We tested the hypothesis that a sub-set of patients with non-specific orbital inflammation NSOI, also known as pseudotumor mimics a limited form of GPA. Formalin-fixed, paraffin-embedded orbital biopsies were obtained from controls n. =. 20 and patients with GPA n. =. 6, NSOI n. =. 25, sarcoidosis n. =. 7, or thyroid eye disease TED n. =. 20 and were divided into discovery and validation sets. Transcripts in the tissues were quantified using Affymetrix U133 Plus 2.0 microarrays.Distinct gene expression profiles for controls and subjects with GPA, TED, or sarcoidosis were evident by principal coordinate analyses. Compared with healthy controls, 285 probe sets had elevated signals in subjects with GPA and 1472 were decreased >. 1.5-fold difference, false discovery rate adjusted p. <. 0.05. The immunoglobulin family of genes had the most dramatic increase in expression. Although gene expression in GPA could be readily distinguished from gene expression in TED, sarcoidosis, or controls, a comparison of gene expression in GPA versus NSOI found no statistically significant differences.Thus, forms of orbital inflammation can be distinguished based on gene expression. NSOI-pseudotumor is heterogeneous but often may be an unrecognized, localized form of GPA.

Subjects: Health Sciences, Opthamology - Health Sciences, Pathology - Research Funding: Financial support was from NIH Grants EY020249, EY010572 and RR024140, Research to Prevent Blindness, the William and Mary Bauman Foundation, the Mas Family Foundation, and the Stan and Madelle Rosenfeld Family Trust.

Keywords: Science and Technology - Life Sciences and Biomedicine - Pathology - Granulomatosis with polyangiitis - Orbital pseudotumor - Orbit pathology - Molecular pathology - Gene expression profiling - Microarray analysis - WEGENERS-GRANULOMATOSIS - DIAGNOSTIC-VALUE - INFLAMMATORY DISEASE - MOLECULAR DIAGNOSIS - CLINICAL-FEATURES - NECK BIOPSIES - RITUXIMAB - LYMPHOMA - THERAPY -



Author: James T. Rosenbaum, Dongseok Choi, David J. Wilson, Hans Grossniklaus, Christina A. Harrington, Cailin H. Sibley, Roger A. Dailey

Source: https://open.library.emory.edu/



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