The aim of the present study was to investigate the characteristics of the four subtypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) in order to improve current knowledge and to aid their diagnosis. A total of 53 cases of MDS/MPNs were analyzed using routine blood cell analysis and morphological, cytogenetic and molecular genetic characteristics were investigated. Numerical data for several groups were compared using a single-factor analysis of variance. The Student-Newman-Keuls test was used to compare the means of two groups. The proportions were compared using a Chi-square test or Fisher's exact test. Analysis of the patients with MDS/MPNs revealed that 46 patients (86.8%) had paleness and fatigue, and blood analysis revealed hemoglobin (Hb) levels of 83.1±24.6 g/l, a white blood cell (WBC) count of 19.8±8.1×109/l and a platelet (PLT) count of 158.7±108.2×1012/l. Immature neutrophils and monocytes were identified in the peripheral blood at levels of 0.058±0.031 and 0.152±0.034%, respectively. There were 23 cases (43.4%) with dyserythropoiesis and 36 cases (67.9%) had dysgranulopoiesis. Fifteen cases were immunologically characterized using flow cytometry (FCM), of which 13 cases showed abnormalities on blasts and myelocytes. Karyotyping was performed in 27 cases of MDS/MPN and 12 (44.4%) were identified as abnormal. In 23 cases, testing for BCR/ABL1, AML-ETO, CBF-MYH11A, PML-RARA, E2A-PBX1, TEL-AML1, SIL-TAL1 returned negative results. The JAK2V617F mutation was positive in one of five cases. The majority of MDS/MPN cases had anemia, cytosis, low-grade blasts and immature neutrophils in the peripheral blood and dysplasia in the bone marrow. Immunological abnormalities and abnormal karyotypes occurred frequently in MDS/MPNs and although there were no statistical differences between the four subtypes, these were able to aid diagnosis. No specific molecular abnormalities were identified in MDS/MPNs.
Keywords: chronic; cytogenetic; dysplasia; immunology; molecular genetic; myelodysplastic; myeloproliferative; neoplasms.