Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, and an increased risk of progression to acute myeloid leukemia (AML). Diagnosis continues to rely on peripheral blood cytopenias, bone marrow dysplasia, blast percentage, and cytogenetic abnormalities, although molecular profiling is now increasingly integrated into the diagnostic process. The 2022 World Health Organization (WHO) and International Consensus Classification (ICC) systems incorporate genomic features such as < em data-start="549" data-end="556" > SF3B1 < /em > and < em data-start="561" data-end="567" > TP53 < /em > mutations and differ slightly in blast count thresholds and recognition of germline predisposition syndromes, including < em data-start="688" data-end="695" > DDX41 < /em > -associated MDS. < /p > < p data-start="715" data-end="1237" > Pre-MDS entities such as clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of undetermined significance (CCUS) — characterized by clonal mutations without overt dysplasia — have gained attention for their prognostic significance and potential as early therapeutic targets. MDS often coexists with other conditions, including cardiovascular disease, chronic inflammation, VEXAS syndrome, and paroxysmal nocturnal hemoglobinuria (PNH), all of which may influence prognosis and treatment response. < /p > < p data-start="1239" data-end="1576" > Prognostic assessment has evolved from the Revised International Prognostic Scoring System (IPSS-R) to the more precise IPSS-M, which integrates molecular data for improved survival and transformation prediction. Patient-related factors, such as performance status and comorbidities, also remain essential for accurate prognostication. < /p > < p data-start="1578" data-end="2050" > Treatment of higher-risk MDS (HR-MDS) remains centered on azacitidine, with limited benefit observed from combination regimens and curative potential restricted to allogeneic hematopoietic stem cell transplantation. In lower-risk MDS (LR-MDS), novel agents such as luspatercept and imetelstat have expanded therapeutic options for anemic patients. Emerging artificial intelligence tools show promise in early diagnosis and risk prediction but require further validation. < /p > < p style="text-align: justify;" data-start="2052" data-end="2208" data-is-last-node="" data-is-only-node="" > This review summarizes the current state of MDS diagnosis, prognosis, and treatment, emphasizing molecular insights and personalized therapeutic approaches. < /p > < /div >
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