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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.

Rare cases of CML present with monocytosis as well as morphologic dysplasia and harbor p210 BCR-ABL1 . Cytogenetic and molecular studies must be performed to confirm the diagnosis of this kind of CML. K E Y W O R D Schronic myeloid leukemia, monocytosis, p210 BCR-ABL

Acute promyelocytic leukemia (APL) is a unique subtype of acute myeloid leukemia (AML) which is characterized by specific clinical and biological features. Typical APL cases are caused by PML::RARA fusion gene and are exquisitely sensitive to all‐trans retinoic acid (ATRA) and arsenic trioxide (ATO). Rarely, APLs are caused by atypical fusions involving RARA or, in fewer cases still, fusions involving other members of the retinoic acid receptors (RARB or RARG). To date, seven partner genes of RARG have been reported in a total of 18 cases of variant APL. Patients with RARG fusions showed distinct clinical resistance to ATRA and had poor outcomes. Here, we report PRPF19 gene as a novel partner of RARG and identify a rare interposition‐type gene fusion in a variant APL patient with a rapidly fatal clinical course. The incomplete ligand‐binding domain of RARG in the fusion protein may account for the clinical ATRA resistance in this patient. These results broaden the spectrum of variant APL associated molecular aberrations. Accurately and timely identification of these rare gene fusions in variant APL is essential to guide therapeutic decisions.

Abstract. In 2008, the World Health Organization (WHO) introduced a new hematological neoplasm category; myelodysplastic/myeloproliferative neoplasms (MDS/MPN), which included four main subcategories. This disease is often misdiagnosed, which delays effective therapy. The present study evaluated the role of routine blood examinations and morphological analysis of peripheral blood cells in the reliable diagnosis of MDS/MPN. In total, 236 adult MDS/MPN patients were analyzed. The analysis included 10 routine blood parameters measured using a Sysmex XE-2100™, 3 differential percentage parameters and 7 morphological features of peripheral blood cells which were analyzed by optical microscopy, and 3 differential absolute count numbers obtained based on the corresponding differential percentages and absolute count of blood cells. The parameters were compared among the subcategories and a value of P<0.05 was considered to indicate a statistically significant difference. The median white blood cell and hemoglobin counts of the patients were 18.0x10 9 /l and 88 g/l, respectively. The proportion of monocytes increased to 8% (1.82x10 9 /l), the proportion of blast cells increased to 1% (0.5x10 9 /l) and that of neutrophil precursors increased to 10% (1.98x10 9 /l). A total of 87% of all patients presented with hypogranulation and 71% presented with abnormal condensed nuclear chromatin in granulocytes. Atypical monocytes were observed in 73% of all patients and Pseudo-Pelger cells were observed in 60%. Significant differences were detected among the subcategories. The present study demonstrated that combining blood routine parameters and the morphological analysis of peripheral blood cells have an essential role in the reliable diagnosis of MDS/MPN based on WHO categories.

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