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

James T. Rosenbaum; Dongseok Choi; David J. Wilson; Hans E. Grossniklaus; Christina A. Harrington; Cailin H. Sibley; Roger A. Dailey; John D. Ng; Eric A. Steele; Craig N. Czyz; Jill A. Foster; David Tse; Chris Alabiad; Sander Dubovy; Prashant K. Parekh; Gerald J. Harris; Michael Kazim; Payal J. Patel; Valerie A. White; Peter J. Dolman; Bobby S. Korn; Don O. Kikkawa; Deepak P. Edward; Hind M. Alkatan; Hailah al-Hussain; R. Patrick Yeatts; Dinesh Selva; Patrick Stauffer; Stephen R. Planck

doi:10.1016/j.yexmp.2015.07.002

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

James T. Rosenbaum, Dongseok Choi, David J. Wilson, Hans E. Grossniklaus, Christina A. Harrington, Cailin H. Sibley, Roger A. Dailey, John D. Ng, Eric A. Steele, Craig N. Czyz, Jill A. Foster, David Tse, Chris Alabiad, Sander Dubovy, Prashant K. Parekh, Gerald J. Harris, Michael Kazim, Payal J. Patel, Valerie A. White, Peter J. DolmanBobby S. Korn, Don O. Kikkawa, Deepak P. Edward, Hind M. Alkatan, Hailah al-Hussain, R. Patrick Yeatts, Dinesh Selva, Patrick Stauffer, Stephen R. Planck

Research output: Contribution to journal › Article › peer-review

27 Scopus 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.

Original language	English (US)
Pages (from-to)	271-278
Number of pages	8
Journal	Experimental and Molecular Pathology
Volume	99
Issue number	2
DOIs	https://doi.org/10.1016/j.yexmp.2015.07.002
State	Published - Oct 1 2015

Keywords

Gene expression profiling
Granulomatosis with polyangiitis
Microarray analysis
Molecular pathology
Orbit pathology
Orbital pseudotumor

ASJC Scopus subject areas

Pathology and Forensic Medicine
Molecular Biology
Clinical Biochemistry

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10.1016/j.yexmp.2015.07.002

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Rosenbaum, J. T., Choi, D., Wilson, D. J., Grossniklaus, H. E., Harrington, C. A., Sibley, C. H., Dailey, R. A., Ng, J. D., Steele, E. A., Czyz, C. N., Foster, J. A., Tse, D., Alabiad, C., Dubovy, S., Parekh, P. K., Harris, G. J., Kazim, M., Patel, P. J., White, V. A., ... Planck, S. R. (2015). Orbital pseudotumor can be a localized form of granulomatosis with polyangiitis as revealed by gene expression profiling. Experimental and Molecular Pathology, 99(2), 271-278. https://doi.org/10.1016/j.yexmp.2015.07.002

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 2015, 'Orbital pseudotumor can be a localized form of granulomatosis with polyangiitis as revealed by gene expression profiling', Experimental and Molecular Pathology, vol. 99, no. 2, pp. 271-278. https://doi.org/10.1016/j.yexmp.2015.07.002

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title = "Orbital pseudotumor can be a localized form of granulomatosis with polyangiitis as revealed by gene expression profiling",

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.",

keywords = "Gene expression profiling, Granulomatosis with polyangiitis, Microarray analysis, Molecular pathology, Orbit pathology, Orbital pseudotumor",

author = "Rosenbaum, {James T.} and Dongseok Choi and Wilson, {David J.} and Grossniklaus, {Hans E.} and Harrington, {Christina A.} and Sibley, {Cailin H.} and Dailey, {Roger A.} and Ng, {John D.} and Steele, {Eric A.} and Czyz, {Craig N.} and Foster, {Jill A.} and David Tse and Chris Alabiad and Sander Dubovy and Parekh, {Prashant K.} and Harris, {Gerald J.} and Michael Kazim and Patel, {Payal J.} and White, {Valerie A.} and Dolman, {Peter J.} and Korn, {Bobby S.} and Kikkawa, {Don O.} and Edward, {Deepak P.} and Alkatan, {Hind M.} and Hailah al-Hussain and Yeatts, {R. Patrick} and Dinesh Selva and Patrick Stauffer and Planck, {Stephen R.}",

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T1 - Orbital pseudotumor can be a localized form of granulomatosis with polyangiitis as revealed by gene expression profiling

AU - Rosenbaum, James T.

AU - Choi, Dongseok

AU - Wilson, David J.

AU - Grossniklaus, Hans E.

AU - Harrington, Christina A.

AU - Sibley, Cailin H.

AU - Dailey, Roger A.

AU - Ng, John D.

AU - Steele, Eric A.

AU - Czyz, Craig N.

AU - Foster, Jill A.

AU - Tse, David

AU - Alabiad, Chris

AU - Dubovy, Sander

AU - Parekh, Prashant K.

AU - Harris, Gerald J.

AU - Kazim, Michael

AU - Patel, Payal J.

AU - White, Valerie A.

AU - Dolman, Peter J.

AU - Korn, Bobby S.

AU - Kikkawa, Don O.

AU - Edward, Deepak P.

AU - Alkatan, Hind M.

AU - al-Hussain, Hailah

AU - Yeatts, R. Patrick

AU - Selva, Dinesh

AU - Stauffer, Patrick

AU - Planck, Stephen R.

PY - 2015/10/1

Y1 - 2015/10/1

N2 - 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.

AB - 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.

KW - Gene expression profiling

KW - Granulomatosis with polyangiitis

KW - Microarray analysis

KW - Molecular pathology

KW - Orbit pathology

KW - Orbital pseudotumor

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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