Results of molecular-cytogenetic studies in cases of suspected chronic myeloid leukemia

Aim. Chronic myeloid leukemia (CML) is a myeloproliferative disease and one of the most common chronic myeloproliferative disorders. The main objective of this study was to investigate the frequency and characteristics of chromosomal changes in patients with suspected or confirmed CML based on the results from the scientific medical-genetic center “LeoGEN”. Methods. The methods used in this study include GTG-karyotyping, FISH (fluorescence in situ hybridization), and RT-PCR (reverse transcription-quantitative polymerase chain reaction). The research was conducted from January 2022 to October 2024. Results. FISH, GTG, and RT-PCR were performed on peripheral blood (PB) and bone marrow (BM) cells of 39 patients. FISH analysis using LSI BCR/ABL1 dual-color Cytocell probes was performed on 35 samples. In BM cells of 11 out of 39 individuals, the GTG method identified or ruled out chromosomal changes. RT-PCR was performed on 12 BM cell samples. Conclusions. The results demonstrate the necessity of incorporating molecular and cytogenetic methods into clinical practice to improve CML management and optimize treatment strategies. A comparison of CML research results using different methods is presented, highlighting the importance of their integrated application.