Gene expression clusters change and molecular correlation via STING pathway between orbital MALT lymphoma and orbital IgG4-related eye diseases
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PROVIDER: PRJNA1157331 | ENA |
REPOSITORIES: ENA
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Project description:Purpose: MALT lymphoma orbital region and IgG4-related eye disease (IGG4ROD) account for the majority of mass lesions in the orbital region. They may show similar shadows on radiological images, and many cases are difficult to differentiate clinically. We investigated what kind of gene expression cluster(RNA-seq) and molecular differences are responsible for two diseases. Methods: Total RNA was extracted from fresh tissues in 20 cases which were histopathologically diagnosed from 20XX to 20XX, and a sequence library was created. Next-generation sequencing analysis (RNA-seq, NovaSeq6000) was performed to compare gene expression between the two groups, and principal component analysis and cluster hierarchy analysis were performed. Results: In principal component analysis, orbital MALT lymphoma and IgG4ROD were clustered in component 2in PCA analysis. Clear cluster differences were observed, except for one case that appeared to be IgG4-producing MALT lymphoma. In addition, cluster analysis showed that one case that appeared to be IgG4-producing MALT lymphoma was located just between the IGG4ROD and MALT lymphoma clusters. Furthermore, in a comparison of up regulator analysis between IgG4ROD and MALT lymphoma, 582 genes were identified as candidates(p<0.01). Pathway analysis of MALT lymphoma suggested that the Sting pathway be activated. Sting pathway-down-stream analysis were significant eight gene expression changes)P<0.05). In addition, STING immunohistochmical analysis were detected different formed staining pattern using quantitative evaluation in IgG4ROD and MALT(P<0.01). Conclusion: MALT lymphoma orbital and IgG4-related eye disease (IGG4ROD) can be divided into two clusters of gene expression. The Sting pathway may be a important pathway specific to orbital MALT lymphoma compared with orbital IgG4ROD.
2025-09-01 | GSE276421 | GEO
Project description: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 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. A comprehensive analysis of 2,565 miRNAs was performed in biopsied specimens and serum of 17 cases with IgG4-ROD and 21 cases with orbital MALT lymphoma. We identified specific miRNA signatures, their miRNA target pathways, and network analysis associated with 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. In the tissue pathway, Longevity regulating pathway in IgG4-ROD and MAPK signaling pathway in orbital MALT lymphoma were most enriched by downregulated miRNAs. This is the first evidence of the miRNA profile in biopsied specimens and serum of patients with IgG4-ROD and orbital MALT lymphoma. These data will be useful for developing diagnostic and therapeutic interventions, as well as elucidating of these disorders.
2021-08-01 | GSE155177 | GEO
Project description:IgG4-ROD and orbital MALT lymphoma
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Project description:Aim to investigate the pathogenesis of BLEL of the lacrimal gland, which is a kind of IgG4 related disease. A prospective study. Orbital Cavernous Hemangioma Tissues (nine continuous cases) vs. Benign Lymphoepithelial Lesions of the Lacrimal Gland tissues (nine continuous cases). Duplicate chips were used for each RNA sample.
2016-01-06 | E-GEOD-76497 | biostudies-arrayexpress
Project description:Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a fibroinflammatory disorder signified by aberrant infiltration of IgG4-restricted plasma cells in a variety of organs. Clinical presentation is heterogeneous and pathophysiological mechanisms of IgG4-related autoimmunity remain elusive. Secondary parenchymal lesions of IgG4-RD in the central nervous system (CNS) are rare and there are very few cases of IgG4-RD with isolated CNS manifestation. Patients suffering from IgG4-RD frequently require prolonged treatment with glucocorticoids and are often unable to taper these medications. By leveraging single-cell sequencing of the cerebrospinal fluid (CSF) of a patient with an unusual inflammatory intracranial pseudotumor we provide novel insights into the immuno-pathophysiology of IgG4-RD by illustrating an IgG4-RD-associated polyclonal T cell response in the CSF and multifaceted cell-cell interaction between immune cell subsets and pathogenic B cells.
2021-06-19 | E-MTAB-10479 | biostudies-arrayexpress
Project description:Bulk RNA-Seq and snRNA-Seq of human orbital aft
2024-06-24 | GSE174139 | GEO
Project description:Transcriptome analysis in patients with IgG4-RD and healthy controls IgG4-related disease (IgG4-RD) is a new emerging disease entity characterized by elevated serum IgG4 concentrations and tissue tumefaction or infiltration by IgG4-positive plasma cells. At present, however, it is not clear whether IgG4-RD is caused by abnormalities in acquired immunity, like autoimmune diseases, or whether the excess production of IgG4 is a true cause of IgG4-RD or an epiphenomenon associated with inflammatory and/or allergic reactions. We therefore attempted to identify genes related to the pathogenesis or clinicopathology of IgG4-RD. Peripheral blood mononuclear cells (PBMCs) were obtained from patients with IgG4-RD before and after steroid therapy and from healthy controls. Total RNA was extracted and DNA microarray analysis was performed to screen for genes showing changes in expression. To exclude any gender-related differences in gene expression, DNA microarray analysis was performed only on samples obtained from male patients and controls. Total RNA was reverse transcribed to cDNA using AmbionM-BM-. WT Expression kits (Applied Biosystems, Foster City, CA), labeled with GeneChipM-BM-. WT Terminal Labeling and Controls kits (Affymetrix, Santa Clara, CA), and hybridized to GeneChipM-BM-. Human Gene 1.0 ST Arrays (Affymetrix), which include 28869 probes. Digitalized image data were processed using GeneChipM-BM-. Operating Software (Affymetrix).
2015-03-03 | E-GEOD-66465 | biostudies-arrayexpress
Project description:Transcriptomic profiling of human orbital fat and differentiating orbital fibroblasts
| PRJNA728568 | ENA
Project description:Transcriptome analysis in patients with IgG4-RD and healthy controls IgG4-related disease (IgG4-RD) is a new emerging disease entity characterized by elevated serum IgG4 concentrations and tissue tumefaction or infiltration by IgG4-positive plasma cells. At present, however, it is not clear whether IgG4-RD is caused by abnormalities in acquired immunity, like autoimmune diseases, or whether the excess production of IgG4 is a true cause of IgG4-RD or an epiphenomenon associated with inflammatory and/or allergic reactions. We therefore attempted to identify genes related to the pathogenesis or clinicopathology of IgG4-RD. Peripheral blood mononuclear cells (PBMCs) were obtained from patients with IgG4-RD before and after steroid therapy and from healthy controls. Total RNA was extracted and DNA microarray analysis was performed to screen for genes showing changes in expression.
2015-03-03 | GSE66465 | GEO
Project description:Graves’ ophthalmopathy (GO) is an extrathyroidal complication of Graves’ hyperthyroidism. Orbital fibroblast, an important cell in the pathogenesis of GO, is responsible for GO characteristics during active and inactive stages; however, information on the extensive profiles and the mechanistic regulations behind orbital fibroblast phenotypes are currently limited. The aim of this study was to compare the proteome profile of orbital fibroblasts isolated from inactive GO, active GO and healthy control. The proteome profile was further integrated with global DNA methylation data to identify this epigenetics regulation involved in the pathogenesis of GO. Methods Orbital fibroblasts culture isolated from five inactive GO, four active GO and five controls were cultured for total protein and DNA extraction. The labelled and fractionated proteins were analyzed with a liquid chromatography tandem-mass spectrometer (LC-MS/MS). On the other hand, the bisulphite-treated DNA was measured with the Illumina Infinium Human Methylation 450K beadchip. Proteome and methylation data were validated by real-time quantitative (RQ)-PCR. Network, pathway and functional analysis were performed by Ingenuity (Qiagen). Results Orbital fibroblasts from active GO displayed overexpression of proteins typically involved with inflammation, cellular proliferation, hyaluronan synthesis and adipogenesis, while several proteins linked to extracellular matrix (ECM) biology and fibrotic disease were overexpressed in orbital fibroblasts from inactive GO. The DNA methylation patterns were similar in healthy control and inactive GO orbital fibroblasts which were distinct from active GO orbital fibroblasts. In orbital fibroblasts from active GO hypermethylated genes link to inflammation while those genes hypomethylated are involved in adipogenesis and autoimmune-related genes. For the network analysis, overlapped between hypermethylated and hypomethylated genes were observed including NF-B, ERK1/2, Alp, RNA polymerase II, Akt and IFNα. In addition, NF-κB, Akt and IFNα were also identified in networks from the differentially expressed proteins. In general, poor correlation between protein expression, DNA methylation and mRNA expression in our study was observed.
2021-01-27 | PXD022257 | Pride