Investigation of the chromosomal aberrations (chr. 1-9) in chronic myeloid leukemia by MLPA technique

In this study, it is aimed at investigating chromosomal aberrations in Chronic Myeloid Leukemia (CML) and particularly the aberrations on chromosome regions of nearly 33 genes related with oncogenes (MYB, MYC, NRAS and etc.), transcription factor (RENT2, NFKBIA and etc.), signal transmission (PIK3CA, IMPDH1, PTPRD and etc.), cytokines (IL1, TANK, IL13 and etc.), immune system (TGFBR1, PTP4A3) and apoptosis (MOAP1, BAX, PDCD8 and etc.) by the method of MLPA (Multiplex Ligation-dependent Probe Amplification. 48 BCR-ABL positive (p210 chimeric protein) patients and 15 healthy individuals as control were included in the study. The aberrations on different regions of 9 chromosomes, which carried 33 genes, were investigated. Results were analyzed by comparing both among each other and with clinical parameters.As a result of MLPA analyses, duplication was detected in Fibroblast Growth Factor Receptor 1 (FGFR1) gene in 2 CML patients, in Inosine 5? Monophosphate Dehydrogenase 1 (IMPDH1) gene in 4 CML patients and in Postmeiotic Segregation Increased, S. Cerevisiae, 2 (PMS2) gene in 1 CML patient. As a result of comparison with clinical parameters (Sokol risk score; pheripheral eosinophile; bone marrow reticular fibrous score; hemoglobine, leucocyte and thrombocyte counts; survival without progression for 7 years and response to imatinib therapy), it is understood that presence of duplications reduce percentage of survival without progression for 7 years and a significant relationship is found between duplication and the response to imatinib therapy in our patient group. In this thesis study, the duplications of 3 genes in chromosome 7 and 8 were detected for the first time in CML and it is shown that chromosomes 7 and 8 should be the center of more detailed studies.