Sitko V. Determination of molecular-cytogenetic markers for mature B-cell neoplasms in the genome of the substrate cells to improve diagnostic and prognostic criteria

The dissertation is devoted to the research of molecular-cytogenetic features of mature B-cell neoplasms in the genome of the substrate cells to increase the efficiency of differential diagnosis and improving prognostic criteria of the disease conduction due to identification of the frequency and spectrum of chromosome abnormalities in peripheral blood cells, bone marrow and lymph nodes. In the molecular-cytogenetic study 70 patients with mature B-cell neoplasms were included. 30 patient had Diffuse Large B-cell Lymphoma, 10 patients had Burkitt's Lymphoma and 30 patients had Chronic B-cell Leukemia. Abnormalities of chromosomes 1, 4, 8, 11, 12, 13, 14, 16, 17 and 18 were presented in 72,9 % of the patients with mature B-cell neoplasms. Aneuploidy (abnormal number) mentioned chromosomes was identified in 32,9 % of the patients, indicating the genomic instability of malignant cells. Trisomy of chromosome 12 was detected in 11,4 % of the patients with mature B-cell neoplasms. Deletions of the chromosomes 1р36 (CDC2L1 gene), 13q (13q14 and 13q34 loci) and 17р13.1 (TP53 gene) were detected in 51,4 % of cases. Translocations of genes FGFR3, MYC, CCND1, MALT1 and MAF with involvement of the heavy chains IGH genes were established in 22,9 % of the patients. A direct strong correlation between chromosomal abnormalities and response indicators in patients with mature B-cell neoplasms to treatment was establish (rs=0,7, p<0,05). It is the first time the algorithm of molecular cytogenetic studies was proposed for patients with mature B-cell neoplasms. It will help to verify the diagnosis and will provide additional prognostic evaluators for the disease.