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
Pages : 23-31


Background: Multiple myeloma is a plasma cell dyscrasia characterized by transformation of B cells into malignant cells. Although there are data regarding the molecular pathology of multiple myeloma, the molecular mechanisms of the disease have not been fully elucidated.
Aims: To investigate the gene expression profiles in bone marrow myeloma cells via RNA-sequencing technology.
Study Design: Cell study.
Methods: Myeloma cells from four patients with untreated multiple myeloma and B cells from the bone marrow of four healthy donors were sorted using a FACSAria II flow cytometer. The patient pool of myeloma cells and the control pool of B cells were the two comparative groups. A transcriptome analysis was performed and the results were analyzed using bioinformatics tools.
Results: In total, 18.806 transcripts (94.4%) were detected in the pooled multiple myeloma patient cells. A total of 992 regions were detected as new exon candidates or alternative splicing regions. In addition, 490 mutations (deletions or insertions), 1.397 single nucleotide variations, 415 fusion transcripts, 132 frameshift mutations, and 983 fusions, which were reported before in the National Center for Biotechnology Information, were detected with unknown functions in patients. A total of 35.268 transcripts were obtained (71%) (25.355 transcripts were defined previously) in the control pool. In this preliminary study, the first 50 genes were analyzed with the MSigDB, Enrichr, and Panther gene set enrichment analysis programs. The molecular functions, cellular components, pathways, and biological processes of the genes were obtained and statistical values were determined using bioinformatics tools and are presented as a supplemental file.
Conclusion: EEF1G, ITM2C, FTL, CLPTM1L, and CYBA are identified as possible candidate genes associated with myelomagenesis.

Keywords : Flow cytometry, gene expresion, multiple myeloma, plasma cell dyscrasias, transcriptome analyses
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