ePoster listing and sessions

Topic: ESOPRS 2021 ePoster sessions
Time: Sep 17, 2021 16:00 Amsterdam, Berlin, Rome, Stockholm, Vienna, 15:00 London

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Diagnosis of orbital inflammatory diseases by gene expression analysis

Author: Michael Oeverhaus
ePoster Number: 131


Non-specific orbital inflammation (NSOI) and IgG4 related orbital disease (IgG4-ROD) are not always easy to differentiate histologically and clinically. Furthermore, it is still uncertain how and if chronic inflammatory inflammation, like IgG4-ROD, can lead to Mucosa-associated lymphoid tissue (MALT) lymphoma. Therefore, we aimed to evaluate the diagnostic value of gene expression analysis to differentiate orbital autoimmune diseases and elucidate genetic overlaps.


First, we established a database of NSOI, IgG4 ROD and MALT patients of our orbital center (2000-2019). In a consensus process three typical patients of the above mentioned three groups (mean age 56,4±17y) at similar locations were selected. Afterwards, RNA was isolated with the RNeasy FFPE kit (Qiagen) using the archived paraffin-embedded tissue. The RNA was then used for Nanostrings (nCounter®) panels including 1364 genes, which enables high-throughput and reliable RNA analysis. The most significantly up- and downregulated genes were used for a machine learning algorithm to distinguish entities. All statistical analyses were calculated using the Ri386 statistical programming environment (v4.0.3).


Using a set of marker genes the decision-tree-based algorithm could distinguish between the three entities with a high probability (p<0.0001). Interestingly, lymphoma showed a characteristic overlap with IgG4-ROD and NSOI. In contrast, IgG4-ROD shared only one gene with NSOI.


Genetic expression analysis has the potential for faster and more securely differentiation between NSOI and IgG4-ROD. MALT lymphoma and IgG4-ROD showed markedly more genetic similarities compared to NSOI, which points towards possible progression of IgG4-ROD to lymphoma.

Additional Authors

First nameLast nameBase Hospital / Institution

Abstract ID: 21-211