The Pattern of Chromosome Aberrations and Molecular Markers in the Population of Hematological Patients Diagnosed at the University Clinical Center Tuzla



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Submitted Nov 18, 2022
Published Dec 24, 2022
10.24018/ejmed.2022.4.6.1599

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Introduction: Besides cardiovascular, malignant diseases are one of the leading causes of death in Bosnia and Herzegovina. At the top of this list are hematological diseases. This research aimed to identify cytogenetic and molecular biomarkers in patients treated for different types of hematological neoplasms.

Methods: The retrospective study included 1600 samples of patients with different hematological diseases in the period from January 2006 to May 2022. The Polymerase Chain Reaction (RT-PCR) method was used to determine the presence of genetic rearrangements and to confirm the findings of conventional cytogenetic analysis.

Results: Chromosomal aberrations were found in 739 (46,18%) patients. Using the RT-PCR technique, positive cases were increased by 1,5%. The BCR-ABL fusion gene was present in e14-a2 transcript form in 73% of samples, e13-a2 isoform in 21%, e1-a2 in 2%, while e14-a2/e1-a2 transcript coexpression was present in a percentage of 4% of the samples. The PML-RARa fusion gene was found in the form of bcr 1 transcripts in 21%, bcr2 32% and bcr3 59% of the samples. In twelve cases A type of the CBFB-MYH11 fusion transcript was detected. The MLL-AF4 fusion was found in only one case.

Conclusion: The obtained percentages of frequency of individual molecular gene isoforms are in accordance with the results of most other researchers. This refers to the Balkan population and the Caucasian ethnic group.

Keywords: Chromosomes, genetic rearrangements, hematological diseases

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