Use of molecular cytogenetic techniques in the analysis of chromosomal aberrations in haematological malignancies
Abstract
Cytogenetic analysis of bone marrow cells is one of the basic examinations performed in patients with malignant haematological diseases. It helps specify the diagnosis and provides valuable information regarding disease prognosis.
Detection of chromosomal aberrations is limited by the method's resolution and thus more sensitive molecular cytogenetic techniques, based on fluorescence in situ hybridization, are used. These allow rapid and accurate analysis of numerical and structural aberrations, detection of cryptic chromosomal rearrangements, exact determination of breakpoints and identification of altered genes.
Various modifications of molecular cytogenetic techniques are used both in routine laboratory practice as well as for research purposes. These can help detect minimal residual disease, monitor benign proliferation or eventual clonal evolution and assess treatment success.
New insights into molecular changes contribute to a better understanding of pathogenesis, to the stratification of patients for targeted therapy and to the detection of other genetic mechanisms behind the origin and development of the leukaemic clone.