Background: Multiple Myeloma (MM) is plasma cell dyscrasia characterized by transformation of B cells into malignant cells. Although there are data regarding molecular pathology of multiple myeloma, molecularmechanisms of the disease has not been fully explained. Aims: To investigate gene expression profiles in bone marrow myeloma cells via RNA sequencing technology. Study Design: Cell study. Methods: Four untreated MM patients myeloma cells and 4 healthy donors B cells from bone marrow were sorted using FACSAria II. It was occurred two groups as patient pool from myeloma cells and the control pool from B cells. Transcriptome analysis was performed and results were analyzed using bioinformatic tools. Results: Total result of transcriptome data 18.806 transcripts (94.4%) were in pooled MM patients. 992 regions were detected as new exon candidates or altenative splicing regions. In addition, 490 mutations (deletion or insertion) and 1397 SNV were, 415 fusion transcripts, 132 frameshift mutations and 983 fusions which were reported before in NCBI were detected with unknown function were identified in patients. 35.268 transcripts were obtained (71%) (25.355 transcripts were defined previously) in the control pool. This preliminary study, the first 50 genes analyzed with a gene set enchriment analysis program by MSigDB, Enrichr and Panther.Molecular functions, cellular component, pathway and biological process of the genes obtained statistical values by means of bioinformatics tools were presented as supplemental file. Conclusion: EEF1G, ITM2C, FTL, CLPTM1L, and CYBA possible candidate genes were identified in this study which may be associated with myelomagenesis.
21 December 2022 in International Journal of Rheumatic Diseases
Chronic lymphocytic leukemia (CLL) is a disease of nonproliferating and mature-appearing B lymphocytes. Insulin-like growth factor-1 (IGF-1) is a small peptide hormone and has mitogenic and antiapoptotic effects, and insulin-like growth factor binding protein-3 (IGFBP-3) has antiproliferative effects on cells. In this study, we investigated plasma levels of both IGF-1 and IGFBP-3 in patients with CLL compared with controls, and we compared these plasma levels according to prognostic factors. Patients with newly diagnosed CLL who were being followed at the Haseki Training and Research Hospital, İstanbul, Turkey, and volunteers were included in this study. Patients were stratified according to the Rai staging system. Statistical analysis was conducted using SPSS 17.0 for Windows. Forty-three patients [16 women (37%) and 27 men (63%)] were enrolled in this study. Twenty-one volunteers (11 women, 10 men) were included in the control group. The median age of the patients was 65±9 years (range: 18-63 years), and subjects in the control group were 68±8 years old (range: 18-63 years). Even though the plasma levels of IGF-1 were higher and those of IGFBP-3 were lower and the ratio of IGF-I/IGFBP-3 was higher in comparison with the control group, these differences were not statistically significant (p>0.05). In the study group, IGF-1 levels appeared to be increased in parallel to more advanced Rai stages. There were no significant differences between the other groups (p=0.105). Plasma IGF-I levels were found higher in patients than in the control group and plasma IGFBP-3 levels were lower; however, neither result was statistically significant. Plasma IGF level increment was observed in concordance with Rai staging. These results prompted us to think that plasma IGF-1 levels in CLL patients are correlated with tumor burden and Rai staging and therefore could be a valuable prognostic factor. Further comprehensive studies are required to support our results.
1 October 2020 in Transfusion and Apheresis Science