Abstract
The molecular pathogenesis of orbital lymphoproliferative disorders, such as immunoglobulin G4-related ophthalmic disease (IgG4-ROD) and orbital mucosa-associated lymphoid tissue (MALT) lymphoma, remains essentially unknown. Differentiation between the two disorders, which is important since the work-up and treatment can vary greatly, is often challenging due to the lack of specific biomarkers. Although miRNAs play an important role in the regulation of carcinogenesis and inflammation, the relationship between miRNA and orbital lymphoproliferative diseases remains unknown. We performed a comprehensive analysis of 2565 miRNAs from biopsy and serum specimens of 17 cases with IgG4-ROD, where 21 cases with orbital MALT lymphoma were performed. We identified specific miRNA signatures and their miRNA target pathways, as well as the network analysis for IgG4-ROD and orbital MALT lymphoma. Machine-learning analysis identified miR-202-3p and miR-7112-3p as the best discriminators of IgG4-ROD and orbital MALT lymphoma, respectively. Enrichment analyses of biological pathways showed that the longevity-regulating pathway in IgG4-ROD and the mitogen-activated protein kinase (MAPK) signaling pathway in orbital MALT lymphoma was most enriched by target genes of downregulated miRNAs. This is the first evidence of miRNA profiles of biopsy and serum specimens of patients with IgG4-ROD and orbital MALT lymphoma. These data will be useful for developing diagnostic and therapeutic interventions, as well as elucidating the pathogenesis of these disorders.
Highlights
Orbital lymphoproliferative tumors are composed of a heterogeneous group that includes malignant lymphomas, such as mucosa-associated lymphoid tissue (MALT) lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma, as well as benign lymphoproliferative tumors, such as immunoglobulin G4-related ophthalmic disease (IgG4-ROD) and reactive lymphoid hyperplasia
Biopsy specimens were obtained from six patients with IgG4-ROD and eight patients with orbital MALT lymphoma
Lesions were found in other organs in two patients with orbital MALT lymphoma
Summary
Orbital lymphoproliferative tumors are composed of a heterogeneous group that includes malignant lymphomas, such as mucosa-associated lymphoid tissue (MALT) lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma, as well as benign lymphoproliferative tumors, such as immunoglobulin G4-related ophthalmic disease (IgG4-ROD) and reactive lymphoid hyperplasia. It is difficult to differentiate malignant lymphoma from benign lymphoproliferative disorders, as these lesions share common clinical symptoms, imaging diagnosis, and histologic features, as well as molecular markers [1,2,3,4,5,6]. Clinical symptoms, imaging diagnosis, histology, molecular analysis, and flow cytometry using biopsy specimens are the most commonly used approaches for the diagnosis of orbital lymphoproliferative disorders. Several reports have indicated that orbital MALT lymphoma [10,11] and diffuse large B-cell lymphoma [12] develop based on IgG4-ROD, suggesting that these disorders are biologically related
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