Introduction:

Acute myeloid leukemia (AML) and related neoplasms are aggressive hematologic diseases caused by clonal expansion of immature blasts in peripheral blood and bone marrow. These disorders are characterized by biological and clinical heterogeneity, which directly influences risk stratification and patient prognosis. Considering the above, the identification of chromosomal and genetic alterations in hematological malignancies is crucial for the diagnosis, prognosis and risk classification of the patient to better guide therapy.

Objectives:

To establish the type and frequency of chromosomal alterations in patients with AML referred to a third level laboratory in Bogotá, Colombia.

Materials and Methods:

A descriptive, cross-sectional study was carried out in patients with a diagnosis of AML, referred to the laboratory Biogenética Diagnóstica S.A.S. between January and June 2023. The patients' clinical information was collected through medical records and laboratory databases. The data were processed using RStudio version 4.3.1.

Results:

A total of 60 cases were analyzed, with a mean age at diagnosis of 45.75 years. The largest number of cases belonged to the AML-M3 subgroup. A high prevalence of chromosomal alterations was observed in 53.3 % of the cases, with trisomy of chromosome 8 (16.66 %) being the most common alteration, followed by t(15;17)(q24;q21) (11.7%) and t(8;21)(q22;q22) (6.66%) translocations. The most altered chromosomes were chromosomes 8 (23.3%), 17 (18.33%) and 15 (16.66%). Only 21.6 % of the patients complemented the karyotype analysis with FISH, of which 9 presented positive results for t(15;17) and t(8;21).

Conclusions:

The overview of the most frequent chromosomal alterations was identified in a cohort of AML patients.

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