THE IMPACT OF MYELODYSPLASTIC SYNDROMES ON THE PROGRESSION TO ACUTE MYELOID LEUKEMIA

Abstract

In this article, we aimed to synthesize the main findings related to molecular mechanisms, prognostic factors, and diagnostic and monitoring methods involved in the progression of myelodysplastic syndromes (MDS) to acute myeloid leukemia (AML). A bibliographic search was conducted in the PubMed/MEDLINE and SciELO databases using descriptors and the Boolean operators AND and OR, followed by study selection according to previously established inclusion and exclusion criteria. Publications from 2015 to 2026 were analyzed, including original studies, a systematic review, and a meta-analysis. The results showed that MDS progression to AML is associated with clonal evolution, subclone expansion, and the acquisition or persistence of genetic alterations. The main factors related to progression included increased blast percentage, cytopenias, mutational burden, and alterations in genes such as FLT3, RAS, NPM1, IDH1/2, TP53, RUNX1, SRSF2, ASXL1, DNMT3A, and STAG2. The identified methods included NGS, cytogenetics, single-cell sequencing, qPCR, and flow cytometry. It is concluded that integrating clinical, hematological, cytogenetic, and molecular data is essential for a comprehensive assessment of the risk of transformation to AML and for individualized patient monitoring.