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Comparative Characteristics of Cytogenetic Abnormalities in Different Types of Myelodysplastic Syndromes

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Abstract—

Cytogenetic and molecular-cytogenetic rearrangements in the bone marrow cells in 251 patients with newly diagnosed myelodysplastic syndromes (MDS) and in seven patients with MDS transformed into secondary acute myeloid leukemia (AML) were compared. We have established a significant heterogeneity of karyotypes in the structure of clones in all separate MDS forms and all secondary AMLs transformed from MDS, which is the evidence of a diverse genetic composition of bone marrow cells. The evolution of clonal chromosome abnormalities was shown to be a universal mechanism for the formation of abnormal clones. The frequency of pseudo-diploid and hypodiploid clones was shown to increase depending on the structure of a given MDS form (in pseudo-diploid form from 4.5% in MDS with unilineage dysplasia (refractory anemia, RA) to 27.3 in MDS with excess blasts (RAEB 1–2); hypodiploid from 4.5% in RA to 18.2% in RAEB 1–2), which was associated with the loss of genetic material. It has been found that genetic material losses as deletions (57.9%) were more frequently detected in the RA group. Chromosome 11 was more frequently involved in structural rearrangements (31.6%).

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Funding

The study was performed within the national project To Determine the Prognostic Significance of the Intercellular Interaction Mediators and the Clusters of Substrate Cells for Stratifying and Optimizing the Treatment of Myelodysplastic/Myeloproliferative Neoplasms. Implementation term: 2019–2021.

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Authors and Affiliations

  1. Institute of Hematology and Transfusiology, National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine

    S. V. Andreieva & H. S. Starodub

  2. Scientific-Practical Medical Center of Pediatric Cardiology and Cardiosurgery, Ministry of Health of Ukraine, Kyiv, Ukraine

    K. V. Korets

  3. OOO Medical Laboratory, IMMD, Kyiv, Ukraine

    S. V. Andreieva & I. M. Skorohod

Authors
  1. S. V. Andreieva
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  2. K. V. Korets
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  3. I. M. Skorohod
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  4. H. S. Starodub
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Correspondence to K. V. Korets or H. S. Starodub.

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Conflict of interest. The authors declare that they have no conflicts of interest.

Statement of compliance with standards of research involving humans as subjects. The conformity of studies with bioethics standards was confirmed by the Committee for Ethics of the Institute of Hematology and Transfusiology of the National Academy of Medical Sciences of Ukraine (Kyiv, Ukraine). All patients gave consent to their participation in the study.

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Andreieva, S.V., Korets, K.V., Skorohod, I.M. et al. Comparative Characteristics of Cytogenetic Abnormalities in Different Types of Myelodysplastic Syndromes. Cytol. Genet. 56, 423–430 (2022). https://doi.org/10.3103/S0095452722050024

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