ISSN : 2146-3123
E-ISSN : 2146-3131

Investigation of Gene Expressions of Myeloma Cells in the Bone Marrow of Multiple Myeloma Patients by Transcriptome Analysis
Melda Sarıman1, Neslihan Abacı1, Sema Sırma Ekmekçi1, Aris Çakiris1, Ferda Perçin Paçal1, Duran Üstek1, Mesut Ayer2, Mustafa Nuri Yenerel3, Sevgi Beşışık4, Kıvanç Çefle5, Şükrü Palandüz5, Şükrü Öztürk5
1Department of Genetics, İstanbul University, Aziz Sancar Experimental Medical Research Institute, İstanbul, Turkey
2Clinic of Hematology, İstanbul Haseki Training and Research Hospital, İstanbul, Turkey
3Department of Hematology, İstanbul Universiy, İstanbul School of Medicine, İstanbul, Turkey
4Department of Internal Medicine, İstanbul Universiy, İstanbul School of Medicine, İstanbul, Turkey
5Department of Internal Medicine, Division of Medical Genetics, İstanbul Universiy, İstanbul School of Medicine, İstanbul, Turkey
DOI : 10.4274/balkanmedj.2018.0356

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.

Keywords : Plasma cell dyscrasias, flow cytometry, myeloma cells, transcriptome
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