Department of Cytogenetics

The department is included in the Complement of the laboratories of the IHBT. It continuously advocates an independent and impartial assessment of the professional competence of the Complement of Laboratories according to the ČSN EN ISO 15189 standard, the application of which is verified by the Czech Institute for Accreditation. The test methods within the scope of accreditation are defined by the Annex to the Certificate of Accreditation in the current version, which is available on the IHBT website.

The Cytogenetics Department deals with cytogenetic and molecular cytogenetic diagnosis of acquired chromosomal aberrations in cancer cells in adult patients with various types of hematological malignancies. These examinations are important in establishing the diagnosis, determining the prognosis and monitoring the success of therapy.

All available classical and cytogenomic methods are established and used for diagnostic and research purposes.

In classical cytogenetic analysis, bone marrow cells or stimulated or unstimulated peripheral blood lymphocytes are cultured in growth medium. Chromosome preparations are stained with the appropriate banding method (G-banding of chromosomes in metaphase) and then evaluated by microscopy and computer image analysis. Based on the results of classical cytogenetic analysis, all pathological findings are verified by fluorescence in situ hybridization (FISH). This method allows the identification of numerical and structural changes in dividing and non-dividing cells (interphase nuclei). It is used to screen for the most common chromosomal changes in haematological malignancies, to detect residual leukaemic cells after chemotherapy or to detect complex chromosomal rearrangements that cannot be determined by classical cytogenetic analysis. For the study of structural chromosomal changes, all available modifications of the FISH method (I-FISH, cIg FISH, mFISH, mBAN) are used. For research purposes, we also use chip technologies (aCGH, aCGH/SNP).

Within the research activities, our department participates in the research project of the IHBT, which deals mainly with the issue of genome instability of leukemia cells. The aim of the studies are molecular cytogenetic analyses of cryptic deletions and chromosome rearrangements in bone marrow and blood cells of patients with myeloid neoplasia and myeloid leukemias. Using molecular techniques, the exact chromosome breakpoints are located and the corresponding genes in the deleted regions are mapped. The study of chromosomal alterations not only serves to clinically stratify patients into prognostic groups, but is also a necessary basis for identifying genes that are associated with tumor initiation and progression. Analyses of these genes and their products help us to understand the pathogenesis of malignant transformation and contribute significantly to the development of new therapeutics and targeted treatments.

The Cytogenetics Department cooperates very closely with the Centre for Tumour Cytogenomics at the VFN on the basis of an agreement between the two institutions from 2002.

The staff is bound by confidentiality according to the Health Services Act, 372/2011 Coll.

Confidence and high data security is one of the basic priorities within the activities of the Complement of Laboratories of the IHBT. The established procedures are carried out in accordance with the Personal Data Processing Act 110/2019 Coll. and Regulation (EU) 2016/679 of the European Parliament and of the Council of 27 April 2016 on the protection of natural persons with regard to the processing of personal data and on the free movement of such data, and repealing Directive 95/46/EC. More information is available on the IHBT website.