The article presents a literature review of the cytogenetic aspects of diagnosis and monitoring of acute myeloid leukemia. It provides a detailed analysis of the nature of acute myeloid leukemia, its prevalence, and the possibilities of studying the morphological, immunological, and molecular genetic characteristics of blast cells. Cytogenetic methods of standard karyotyping and fluorescent in situ hybridization allow for the detection of recurrent and unique chromosomal abnormalities that lead to changes in the structure and expression of oncogenes and tumor suppressor genes, which has diagnostic and prognostic significance. The modern classification of acute myeloid leukemia is based on the morphological, immunophenotypic, and genetic features of blast cells. Identification of genetic markers - recurrent chromosomal rearrangements and gene mutations - allows for the determination of acute myeloid leukemia subtypes with favorable, unfavorable, and intermediate prognoses.

Acute myeloid leukemia, mutation, monitoring

Alaggio R, Amador C, Anagnostopoulos I, Attygalle AD, Araujo IBO, Berti E, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: lymphoid neoplasms. Leukemia. 2022;36:1720–48. doi: 10.1038/s41375-022-01620-2. [DOI] [PMC free article] [PubMed] [Google Scholar]

Gupta V., J. A. Kennedy, J. M. Capo- Chichi, et al., “Genetic Factors Rather Than Blast Reduction Determine Outcomes of Allogeneic HCT in BCR- ABL- Negative MPN in Blast Phase,” Blood Advances 4, no. 21 (2020): 5562–5573.

Jeon SJ, Park JH, Lim H, Won EJ, Choi H, Choi HJ, et al. First case of ETV6-RUNX1 fusion in adult de novo acute myeloid leukemia detected using targeted RNA sequencing. Ann Lab Med. 2023;43:92–5. doi: 10.3343/alm.2023.43.1.92. [DOI] [PMC free article] [PubMed] [Google Scholar]

Kendrick TS, Buic D, Fuller KA, Erber WN. Abnormalities in chromosomes 5 and 7 in myelodysplastic syndrome and acute myeloid leukemia. Ann Lab Med. 2025;45:133–45. doi: 10.3343/alm.2024.0477. [DOI] [PMC free article] [PubMed] [Google Scholar]

Park C, Yoon J, Jang M, Lee JY, Kim H, Kim M, et al. Revision of laboratory testing guidelines for the diagnosis of hematologic neoplasms based on the 5th edition of the World Health Organization classification and International Consensus Classification. Lab Med Online. 2025;15:105–18. doi: 10.47429/lmo.2025.15.2.105. [DOI] [Google Scholar]

Park JH, Kang MG, Kim HR, Lee YE, Lee JH, Choi HJ, et al. Changing the frequency and spectra of chromosomal aberrations in Korean patients with acute leukemia in a tertiary care hospital. Blood Res. 2020;55:225–45. doi: 10.5045/br.2020.2020255. [DOI] [PMC free article] [PubMed] [Google Scholar]

Rubnitz J.E., Inaba H. Childhood acute myeloid leukaemia. Br J Haematol 2012;159(3):259–76. DOI: 10.1111/ bjh.12040. PMID: 22966788.

Yun J. Reclassification of acute myeloid leukemia according to the 2022 World Health Organization classification and the International Consensus Classification using open-source data. Ann Lab Med. 2025;45:170–7. doi: 10.3343/alm.2024.0194. [DOI] [PMC free article] [PubMed] [Google Scholar]

Zhao D., E. Eladl, M. Zarif, et al., “Molecular Characterization of AML- MRC Reveals TP53 Mutation as an Adverse Prognostic Factor Irrespective of MRC- Defining Criteria, TP53 Allelic State, or TP53 Variant Allele Frequency,” Cancer Medicine 12, no. 6 (2023): 6511–6522.