Faculty Collaboration Database

Orbital pseudotumor can be a localized form of granulomatosis with polyangiitis as revealed by gene expression profiling. Exp Mol Pathol 2015 Oct;99(2):271-8

Date

07/15/2015

Pubmed ID

26163757

Pubmed Central ID

PMC4591186

DOI

10.1016/j.yexmp.2015.07.002

Scopus ID

2-s2.0-84939448235 (requires institutional sign-in at Scopus site)   28 Citations

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.

Author List

Rosenbaum JT, Choi D, Wilson DJ, Grossniklaus HE, Harrington CA, Sibley CH, Dailey RA, Ng JD, Steele EA, Czyz CN, Foster JA, Tse D, Alabiad C, Dubovy S, Parekh PK, Harris GJ, Kazim M, Patel PJ, White VA, Dolman PJ, Korn BS, Kikkawa DO, Edward DP, Alkatan HM, al-Hussain H, Yeatts RP, Selva D, Stauffer P, Planck SR

Author

Gerald J. Harris MD Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adult
Biomarkers
Case-Control Studies
Female
Gene Expression Profiling
Granulomatosis with Polyangiitis
Graves Ophthalmopathy
Humans
Inflammation
Male
Middle Aged
Oligonucleotide Array Sequence Analysis
Orbital Pseudotumor
Sarcoidosis