Диагностика хронических лейкозов с применением методов молекулярной цитогенетики. Особенности методологии

Abstract

Cytogenetic methods of cell study of bone marrow and peripheral blood in individuals with onco-hematological diseases are widely used for stating a diagnosis and severity assessment. Diversity of methods of chromosome painting enables to fully assess genetic aberrations that is important for treatment strategy identification and prediction of course and prognosis of the disease. Since laboratories often have funding limits it is important to develop approaches for selecting a cytogenetic method for the analysis. The goal of the present work is to analyze cytogenetic abnormality in bone marrow cells in individuals with chronic leukemia by means of three methods of painting that enabled to form a methodology of cytogenetic research for different groups of diseases (chronic myeloleukemia, chronic lymphocytic leukemia, multiple myeloma and primary myelofibrosis). In the present work we have used: G-banding, 24-colour FISH technique. For the individuals with CLL we have used of locus-specific probes: ATM(11q22)/TP53(17p13) and DLEU(13q14)/LAMP(13q34)/cen12(12p11.1;12q11.1). Summarizing the research results we have come to the following conclusions: differential painting enables to identify all chromosome transformations but only in case of ideal chromosome quality which is not the case with bone marrow. The use of 24-colour FISH technique enables to identify translocations even if the chromosome quality is not good. This method attained credibility for searching complex translocations. The cocktail of locus-specific probes for CLL cases demonstrated high efficiency and a high speed of obtaining results. Cytogenetic analysis in the dynamics allows evaluating the peculiarities of a mutation process in the course of treatment.