The myelodysplastic neoplasms (MDS) consist of hematopoietic neoplasms originated in the bone marrow and characterized by dysfunctional hematopoiesis, cytopenias, and dysplasia, which is currently diagnosed using clinical, morphological and genetic parameters. A particular subtype of this disease, MDS with ring sideroblasts (MDS-RS), presents with an abnormal accumulation of perinuclear mitochondrial iron in erythroid precursors and a low risk of progression to acute myeloid leukemia. Therefore, a retrospective longitudinal observational study was conducted with 31 patients diagnosed with MDS-RS at two tertiary hospitals in Fortaleza, Ceará. The clinical characteristics and the results of karyotype, as well as the transfusion dependence of patients were evaluated. From these 31 patients, 16 (51.6%) are female and 15 (48.4%) are male. 18 had normal karyotype (58.1%), and 13 had altered karyotype (41,9%). As for cytogenetic abnormalities, it was observed that of these 13 patients, 2 patients had Y nullisomy (15.3%), 2 had chromosome 11 deletion (15.3%), 1 manifested chromosome 20 deletion (7.7%), 2 (15.3%) with chromosome 5 deletion, 1 exhibited chromosome 7 deletion (7.7%), 1 presented trisomy of chromosome 8 (7.7%), and 4 had other alterations (31%). In regard to risk stratification of these 30 patients, 29 had very low or low risk (93.5%) and 2 had intermediate risk (6.5%). Considering transfusion dependence, 11 were dependent (35.5%) and 20 were not (64.5%). From these 11 patients who underwent transfusion 2 (18.1%) had this terapy at diagnosis and 9 (81.9%) after first-line treatment. Low-risk MDS is a heterogeneous group of disorders – clinically, pathologically, and even molecularly. Despite being generally considered a low-risk subtype of MDS, with generally good prognosis, MDS-RS is an entity with diverse clinical presentations, characterized by transfusion dependence and a range of cytogenetic alterations as demonstrated in this study. High risk of developing transfusion dependence is frequently observed and refractoriness to erythropoietin is now considered formal indication to the new approved TGF-β inhibitor, luspatercept. Therefore, it is necessary to accurately evaluate patients, including iron staining in diagnosis workup, and to perform risk stratification before decision making. In conclusion, it can be stated that clinical and correct laboratory evaluation of individuals with MDS-RS is essential to ensure a better understanding of the patient's condition and to identify important prediction factor of response to therapy.
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