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Microphthalmia-Associated Transcription Family Translocation Renal Cell Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
The transcription factor binding to IGHM enhancer 3 (or transcription factor E3) gene (TFE3) located on chromosome Xp11.23 spans 14 kb and encodes a 575 aa, 61 kDa protein (TFE3). Acting as bHLH domain-containing transcription factor, TFE3 binds MUE3-type E-box sequences (5'-CANNTG-3') in the promoter of genes and enhances the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. Fusion of TFE3 with translocation partner (e.g., alveolar soft part sarcoma chromosome region, candidate 1 [ASPSCR1], papillary renal cell carcinoma [PRCC], non-POU domain containing, octamer-binding [NONO]) produces chromosome translocation t(X;1)(p11.2;q21), leading to Xp11 tRCC, alveolar soft part sarcoma and other tumors [34,35]. In association with TFEB, TFE3 activates the expression of CD40L in T cells and contributes to T-cell-dependent antibody responses in activated CD4(+) T cells and thymus-dependent humoral immunity.
Applications of multiple reaction monitoring targeted proteomics assays in human plasma
Published in Expert Review of Molecular Diagnostics, 2019
Georgia Kontostathi, Manousos Makridakis, Jerome Zoidakis, Antonia Vlahou
MRM assays have also been applied to quantify plasma immunoglobulins and glycoforms thereof, associated with HCC [65]. In brief, immunoglobulins were enriched via protein A and G columns from the plasma of cirrhotic and HCC patients as well as healthy controls (n total = 15) and quantified using AQUA MRM. The IGHG1, IGHM, IGHG3, and IGHA1 absolute concentrations in plasma were found to gradually increase when comparing healthy subjects, to cirrhotic and HCC patients (Table S1). In addition, increased levels (twofold) of glycoforms FA2G0 and FA2BG0 of all IgG subclasses were observed when comparing CIR and HCC patients to healthy controls. In contrast, the FA2G2 glycoform of IgG was detected at decreased levels in the disease versus control groups [66]. This study, classified as Tier 2, provides preliminary evidence that progression to liver diseases may be linked to changes in immunoglobulin subclasses and their glycosylation levels, nevertheless the employed sample sizes were very small and a large-scale validation of these findings is pending.
Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis
Published in Annals of Medicine, 2021
In survival analysis, only IGHM had significance in OS and DFS. IGHM is a protein-coding gene. IgM antibodies are involved in the recognition and elimination of precancerous and cancerous lesions, have been found to be upregulated in breast cancer [58] and were considered a biomarker for recurrence [59]. IGHM also retained a significant prognostic impact on the density of intratumoural CD20+ B cells [60] and was associated with type 1 diabetes [61]. IGHM is involved in oxidative stress and in skin regeneration [62], suggesting that it may be involved in cell proliferation. We tried to find relevant IGHM-regulated cascade response signals, similar to other studies [63–67]. Transcription factor binding to IGHM enhancer 3 (TFE3) is related to renal cell carcinoma [68,69]. PRCC-TFE3 tRCC is a TFE3 Xp11.2 translocation renal cell carcinoma (TFE3-tRCC) that promotes cell survival and proliferation by implicating in PINK1-PRKN/parkin-dependent mitophagy and activating the expression of the E3 ubiquitin ligase PRKN, leading to rapid PINK1-PRKN-dependent mitophagy that promotes cell survival under mitochondrial oxidative damage as well as cell proliferation by decreasing mitochondrial ROS formation [68], suggesting that there are similar regulatory mechanisms in endometriosis. In our study, IGHM was significantly involved in the CC of extracellular exosomes. Exosomes are released following the fusion of multivesicular bodies with the plasma membrane and the extracellular release of intraluminal vesicles [70]. Exosomes are EVs 50–100 nm in size that deliver proteins, lipids and nucleic acids [71,72] to target cells, and their main functions include antigen presentation, pathogen spread, proliferation, differentiation, apoptosis, migration and invasion [73–75]. In our immunofluorescence validation, the expression of IGHM was highest in ectopic endometrium, and differed from eutopic endometrium and normal endometrium (Figure 5), which is consistent with our analysis. Therefore, regulating IGHM may be another method for endometriosis. We could not find any miRNAs that had been confirmed to interact with IGHM in the three miRNA databases, possibly indicating that IGHM may be a new biomarker for us to explore in the future.