Düşük Riskli Myelodisplastik Sendrom Hastalarının Progresyon Karakteristiğine Etki Eden Klinik ve Patolojik Faktörlerin Belirlenmesi

Abstract

Background: Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders with a highly heterogeneous clinical course, ranging from indolent low-risk forms to progression to high-risk MDS or acute myeloid leukemia (AML). Although numerous clinical, laboratory, pathological, and cytogenetic factors have been associated with disease progression, accurately predicting progression at the time of diagnosis remains a major clinical challenge. Early identification of patients at higher risk is crucial for optimizing follow-up strategies and therapeutic decision-making. Objective: The aim of this study was to evaluate clinical, laboratory, pathological, and cytogenetic factors associated with progression to high-risk MDS or AML in patients diagnosed with low- and intermediate-risk MDS at baseline. Methods: A total of 262 adult patients followed in the adult hematology unit of Hacettepe University Hospitals between January 1, 2010, and January 1, 2024, and classified as low or intermediate risk according to the Revised International Prognostic Scoring System (IPSS-R) at diagnosis were retrospectively analyzed. Disease progression was defined as progression to high- or very high-risk MDS or transformation to AML during follow-up. Demographic, clinical, laboratory, pathological, and cytogenetic data were recorded. Factors associated with progression were assessed using univariate and multivariate logistic regression analyses. Overall survival and time-to-progression were analyzed using the Kaplan–Meier method. Results: During follow-up, disease progression occurred in 23 patients (8.8%). The mortality rate among patients with progression was 82.6%. No significant association was observed between progression and age or sex. Baseline IPSS-R risk category was significantly associated with disease progression (p=0.002). Hemoglobin level, platelet count, absolute neutrophil count, serum ferritin level, number of dysplastic lineages, presence of sideroblasts, and bone marrow fibrosis were not identified as significant prognostic factors. A bone marrow blast percentage ≥5% at diagnosis was an independent and strong predictor of progression (OR: 3.93; p =0.007). Cytogenetic analysis demonstrated that the presence of del(5q) significantly increased the risk of progression (OR: 4.06; p =0.031). Although del(7q) and del(11q) showed a trend toward increased progression risk, they did not reach statistical significance in multivariate analyses. Conclusion: In patients with low- and intermediate-risk MDS, baseline IPSSR risk category, bone marrow blast percentage, and selected cytogenetic abnormalities are key determinants of disease progression. In contrast, cytopenias, dysplasia-related features, serum ferritin levels, and bone marrow fibrosis alone were insufficient to predict progression. These findings emphasize the importance of closer surveillance strategies, particularly focusing on blast percentage and cytogenetic characteristics, in low- and intermediate-risk MDS patients.