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Aim: To assess the level of erythropoietin (EPO) in blood sera of patients with different subtypes of myelodysplastic syndromes (MDS) from different risk subgroups and to determine its prognostic role. Materials and Methods: EPO was measured by enzyme-linked immunosorbent assay in peripheral blood of 54 patients with different MDS subtypes according to the French–American–British (FAB) classification. The comparison group consisted of 15 healthy individuals. Complete blood count (hemoglobin, leukocyte and platelet levels) was determined and bone marrow cells were characterized morphologically. The overall and leukemia-free survivals were estimated by Kaplan — Meier method. Results: The level of ЕРО in MDS was reliably higher in comparison with healthy persons (p < 0.01, Mann — Whitney test). No statistically significant difference was found in serum EPO concentration between the groups of patients with low- and high-risk MDS (603.5 pg/ml vs 721.0 pg/ml; p > 0.05). In transfusion-dependent patients, the level of EPO was significantly higher than in other patients, which may be due to increased endogenous EPO secretion resulting from chronic hypoxia. A negative correlation was revealed between EPO level and Hb level as well as between EPO level and percentage of blast cells in bone marrow in high-risk MDS patients but not in patients with less aggressive variants of MDS. Instead, patients with low-risk MDS had a negative relationship between concentrations of EPO and tumor necrosis factor alpha (p = 0.06, Kendall’s tau test). No significant difference was found between EPO concentration in cases differing by bone marrow cellularity or the presence of cytogenetic abnormalities. An EPO concentration below 200 pg/ml was a predictor of shorter overall survival in patients with all MDS subtypes (p < 0.05, Mann — Whitney test). In patients with all FAB disease subtypes, there was no relationship between the leukemia-free survival and serum EPO concentration. Conclusion: This study shows that lower serum EPO level may be considered as one of the additional adverse prognostic factors in MDS patients.

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Background: Monitoring of minimal residual disease (MRD) in chronic myeloid leukemia (CML) patients who are on tyrosine kinase inhibitors (TKI) is one of the best standardized molecular methods. Guidelines for treating these patients include the evaluation of molecular response (MR) based on % BCR-ABL1 on the International Scale (IS) in defined time points. Achieving timely MR is necessary for determining the status of the disease and the use of appropriate therapy. Aims: The aim of this study was to introduce the GeneXpert cartridge-based BCR-ABL1 detection into routine molecular monitoring of CML Slovenian patients from north-eastern region and compare the MR results with those obtained from a standard laboratory method. Methods: BCR-ABL1 transcript quantification was performed in 40 peripheral blood samples from CML patients at different stages of the disease in two different laboratories. First one used automated GeneXpert BCR-ABL Ultra Assay (Cepheid, USA) and the second one used standardized laboratory protocol. The results for both analyzes were expressed as % IS and were estimated by MR according to Laboratory recommendations for scoring deep molecular responses following treatment for chronic myeloid leukemia. Results: The analysis of the results showed that there were no statistically significant differences in the results expressed in % IS (p = 0, 272). Samples according to the estimated MR were divided into 3 groups (8 MR3 samples, 3 MR4 samples and 27 ≥ MR4.5 samples). 27/40 samples had a completely identical MR with both methods. Furthermore, 11/40 samples had higher MR obtained with GeneXpert, while 0/40 samples had lower MR compared to SP. In 2/40 cases, GeneXpert gave MR5 for sample with SP MR3 and MR4 for sample with SP MR3. None of the results obtained with GeneXpert had any effect on a different clinical decision on treatment with TKI as obtained under the SP. When the major molecular response (MMR) was analyzed, 78% agreement was achieved. Summary/Conclusion: GeneXpert BCR-ABL Ultra Assay provides reproducible results and doesn't show significant differences compared with the standardized laboratory protocol. From clinical aspect, Gen-eXpert BCR-ABL Ultra Assay correctly classified the patients in MR and can be considered as a useful and very fast clinical tool for the molecular follow up of patients on tyrosine kinase inhibitors.