Characteristics of the four subtypes of myelodysplastic/myeloproliferative neoplasms

Abstract

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.

Routine blood examinations combined with morphological analysis for the diagnosis of myelodysplastic/myeloproliferative neoplasms

“…In the present study, the median age, M:F ratio, WBC count and platelet count of all patients were 70 years, 3.0:1, 19.8x10 9 /l and 116x10 9 /l (range, 9-1432x10 9 /l), respectively. These data differ slightly from that of a previous study, which were 58 years, 1.65:1, 18.0x10 9 /l and 158x10 9 /l, respectively (6). This difference may be due to a larger number of patients included in the current study and the fact that patients with JMML were excluded.…”

“…Within the subtypes of MDS/MPN, the WBC count of CMML group (25.7x10 9 /l; range, 11-23x10 9 /l) is slightly higher than counts reported in previous studies. The median age of CMML group was 80 years (range, 18-84 years), higher than the median ages of 57-72 years reported in previous studies (6). In the present study, the platelet count was 88x10 9 /l, lower than in previous reports where it varied from 197-220x10 9 /l (7-10).…”

“…In the aCML group, the median age, M:F ratio, WBC count and platelet count were 70 years, 2.7:1, 31.4x10 9 /l and 115x10 9 /l, respectively, in the current study, whereas in previous studies, these parameters all tended to be lower; 68-72 years, 0.85:1 to no gender tendency, 24-40.8x10 9 /l and 112x10 9 /l, respectively (11)(12)(13)(14)(15)(16). In the MDS/MPN-U group, these parameters were 72 years, 7.0:1, 10.2x10 9 /l and 249x10 9 /l (ranging from 22-1432x10 9 /l) in the present study, whereas in previous studies, they were 68-70 years, 1.0:1-2.5:1, 7.5-17x10 9 /l, 100-653x10 9 /l, respectively (6,15,(17)(18)(19). All the results suggest that MDS/MPN is a type of disease that generally occurs in the elderly, with a high male incidence rate (although the M:F ratio of aCML remains uncertain), elevated counts of WBC and varying platelet counts.…”

“…The results indicate the percentage of monocytes in the peripheral blood of aCML patients is <10% (but may exceed 1.0x10 9 /l), the percentage of blasts is <5% and the proportion of neutrophil precursors is 5-15%. In the MDS/MPN-U group, these parameters were 5.5% (0.8x10 9 /l), 0.2% (0.05x10 9 /l) and 1.9% (0.43x10 9 /l) in the present study, and were 6% (0.45x10 9 /l), 1% and 4.5% in previous studies, respectively (6).…”

“…Although bone marrow aspirates, chromosome karyotype analyses, immunophenotype analyses and molecular biological measurements are necessary for a conclusive diagnosis and essential in prognosis assessments of MDS/MPN (6,(24)(25)(26), routine examinations of whole blood, combining peripheral blood parameters, differential counts and morphological features of peripheral blood cells are the first step and pivotal in the diagnosis and differential diagnosis of MDS/MPN and its WHO subcategories. Early and reliable diagnoses of MDS/MPN and its subtypes are currently only made in this manner.…”