Klin Onkol 2015; 28(4): 278-283. DOI: 10.14735/amko2015278.


In this work, we evaluated the incidence and prognostic value of several genetic aberrations in patients with a diagnosis of acute myeloid leukemia (AML). Patients and Methods: We analysed 90 patients: 42 males (mean age 54.5 years) and 48 females (mean age 59 years), with AML. The genetics of all leukemia samples was studied using conventional cytogenetics, the interphase fluorescence in situ hybridisation as well as the standardized RT-PCR protocol. Results: In 34.4% of patients, we detected at least one of the analysed genetic aberrations, except the CBFB- MYH11, which we did not detect. Translocation t(8;21)/ AML1- ETO was found in 4.4% of patients with a mean age of 45.4 years, while none of these patients was older than 55 years. Translocation t(15;17)/ PML-RARA was found in 5.5% of patients with a mean age of 52.6 years and an almost equal distribution between younger and older patients. The MLL gene rearrangements were found in 6.6% of patients, the – 5/ 5q– and/ or – 7/ 7q– aberrations in 7.7% of patients, while the most frequent genetic abnormality in our study was trisomy 8 (10%). Moreover, we found a favorable clinical outcome in patients expressing fusion genes AML1- ETO or PML-RARA in contrast to an adverse clinical outcome with few remissions and death in AML patients with MLL, – 5q/ – 5 and – 7q/ 7– . Finally, an intermediate prognosis was found in patients with trisomy 8. Conclusion: In this study, we found a good congruence with published literature on the incidence and prognostic value of several well established AML-associated genetic aberrations. This simple genetic-based classification system helps us to identify patients with a favorable, intermediate or unfavorable prognosis and to treat them with the best currently available therapy. However, analysis of new genetically defined abnormalities in AML is necessary for development of better therapeutic strategies and/ or diagnostics.


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