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Aim To detect the frequency, diagnostic and prognostic significance of 11q23/MLL rearrangements and to determine the chromosomes that are most frequently involved in 11q23/MLL abnormalities in adult acute leukemia (AL). Materials and methods Cytogenetic investigations of bone marrow and/or peripheral blood cells from 140 patients with acute myeloid leukemia (AML) and 57 patients with acute lymphoblastic leukemia (ALL) were performed. The methods of conventional cytogenetics (GTG-banding) and fluorescence in situ hybridization were used. Results Chromosomal abnormalities in leukemia cells were found by conventional cytogenetic methods in 80 (57%) and 37 (65%) adult patients with AML and ALL, respectively. 11q23/MLL rearrangements were found in 7 (5%) and 8 (14%) patients with AML and ALL, respectively. Among them, 8 (53.4%) patients had translocations, 2 (13.3%) - had deletions and 5 (33.3%) patients had trisomies or tetrasomies of chromosome 11. With respect to the distribution of partner chromosomes involved in 11q23/MLL translocations chromosome 4 was found to participate in 3 (37.5%) cases of 11q23/MLL translocations, 9 - in 2 (25%) cases and chromosomes 10, 14 and non-identified chromosome were involved in 1 (12.5%) case each. Nine patients (60%), besides abnormal ones, had 9-86% normal metaphases in their karyotypes. Of 15 patients with 11q23/MLL rearrangements, 5 (33%) patients had only 11q23/MLL rearrangements, whereas other 10 (67%) - had additional cytogenetic abnormalities, besides 11q23/MLL rearrangements. Conclusions Chromosomal abnormalities of various kinds were found in 57% and 65% adult patients with AML and ALL, respectively. The frequency of 11q23/MLL rearrangements in patients with AML and ALL was 5% and 14%, respectively. Since AL patients with 11q23/MLL rearrangements are attributed to cytogenetic categories of AL with a poor or intermediate risk prognosis, cytogenetic methods should be included in the standard examination of AL patients for diagnosis, prognosis and selection of the optimal treatment strategy.

The aim of the study was to determine peculiarities of the distribution, diagnosis and development of immune cytopenias in patients with chronic lymphocytic leukemia (CLL) and to evaluate the efficacy of the different therapeutic approaches. Materials and methods Treatment response and survival of 83 patients with CLL complicated by immune cytopenia (IC) were analyzed. Treatment schedules in 58 medicated patients included corticosteroids; chemotherapy (COP, CHOP regimens), immunotherapy (rituximab alone), immunochemotherapy (rituximab-containing regimens - R-COP, R-CHOP). Twenty-five patients underwent splenectomy. Results The use of corticosteroids, as the first line of treatment, resulted in short-term remission in most patients. Chemotherapy was effective in a half of CLL patients, but duration of the remission did not exceed 32 months in CLL associated with autoimmune hemolytic anemia and immune thrombocytopenia. After rituximab monotherapy (10 patients) the stable remission was reached in 60% of the patients with median relapse-free survival of 40 months. Rituximab containing chemotherapy (22 patients) caused the long-term remission in 72% of the patients with median relapse-free survival of 76 months. Splenectomy performed in 25 patients with CLL complicated by IC was effective in 70% of the patients. The outcome of splenectomy depends on IC entity. The best response was registered in associated immune thrombocytopenia (median overall survival 118 months), the worst - in Fisher - Evans syndrome (15 months). Conclusions The treatment of patients with CLL complicated by ICs should be individualized. For CLL patients without significant enlargement of lymph nodes and spleen, low lymphocytosis, associated with autoimmune hemolytic anemia or immune thrombocytopenia, the monotherapy with rituximab is optimal. In case of occurrence of autoimmune hemolytic anemia, immune thrombocytopenia or Fisher - Evans syndrome in CLL patients with enlargement of lymph nodes, spleen, significant lymphocytosis, the use of R-COP or R-CHOP schemes, 4-6 courses, is the most effective. Splenectomy is indicated in patients with massive splenomegaly, the resistance to medication, recurrent relapses after adequate therapy.

We carried out the cytogenetic investigation of bone marrow aspirate from 32 patients with different types of MDS. The patients were from 8 regions of Ukraine. 11 patients had abnormal karyotype, and the transformation to AML were observed in 5 of them (45.5%). 27% of all patients had chromosomal changes with 3 or more chromosomes involved. The highest percentage of the patients with chromosomal anomalies (66.7%) was in cases of RAEB. Chromosome deletions were the most frequently detected karyotype abnormalities. We consider the phenomenon of chromosome fragmentation as the cytogenetic approval of the increased level of apoptosis in patients with MDS. The risk of the transformation to AML was measured using new international score system IPSS.

The aim of the study was to improve cytogenetic diagnostics and monitoring of myelofibrosis and to reveal the spectrum of cytogenetic abnormalities in patients from Ukraine.A total of 42 patients (23 females and 19 males) with myelofibrosis was studied using different cytogenetic methods. Granulocyte colony-stimulating factor (G-CSF) was added by the new method during cultivation of peripheral blood (PB) cells from 31 patients for specific stimulation of mitotic divisions. Two patients underwent examination by fluorescent in situ hybridization method.In cell cultures of PB stimulated in vitro with G-CSF and in non-stimulated bone marrow chromosome abnormalities were found in 19 (45.2%) of all the patients. The spectrum of cytogenetic abnormalities of bone marrow and PB was the same in all of the patients. Aspiration of bone marrow was unsuccessful due to significant fibrosis in 10 (29.4%) of 34 patients. The study by fluorescent in situ hybridization method confirmed cytogenetic abnormalities revealed by G-method and discovered additional possibly normal subclone.Cytogenetic study of PB using in vitro G-CSF as a specific stimulant of mitosis instead of phytohemagglutinin revealed significant variety of chromosomal abnormalities in Ukrainian patients with myelofibrosis. This method could be a less invasive alternative to cytogenetic examination of bone marrow in the subgroup of patients with considerable fibrosis and consecutive changes. The usage of fluorescent in situ hybridization method supplemented karyotyping by G-banding method.