In contrast to solid tumours, the genetic background of acute myeloid leukemia (AML) is characterized by a relatively low number of alterations per sample (average 3-5 mutations similarly to paediatric malignancies). Although the mutational background is rather heterogeneous, the detection of genetic alterations has diagnostic, prognostic and therapeutic relevance. We investigated cytogenetic and most commonly occurring molecular genetic alterations, and their co-occurrence in 830 AML patients diagnosed and treated in our institute between 2001 and 2019. Results from the recently introduced next generation sequencing for seven AML patients are also presented. Both methods (previously performed standard PCR-based tests and NGS) achieved the same results for commonly occurring mutations, but NGS technique was capable to identify further, rarely occurring mutations which bear diagnostic and prognostic importance according to the recent European LeukemiaNet recommendations. The introduction of NGS techniques to routine laboratory diagnostic applications is a required step following international expertise.
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