Molecular genetic tests in patients with myelodysplastic syndrome performed at the Institute of Haematology and Blood Transfusion

Authors: M. Beličková 1;  H. Votavová 1;  Čermák J. Za Pracovní Skupinu Pro Mds V Úhkt 1
Authors‘ workplace: Ústav hematologie a krevní transfuze, Praha 1
Published in: Transfuze Hematol. dnes,23, 2017, No. Supplementum1, p. 20-24.

Pozn: *za pracovní skupinu pro MDS v ÚHKT


Myelodysplastic syndrome (MDS) is one of the most common haematological diseases occurring after the age of 60 years. Its pathogenesis has not yet been fully elucidated, but with the development of new molecular genetic methods, the molecular background of the disease is being gradually revealed. Determination of cell mono- or poly-clonality may be considered as the first genetic test performed in MDS patients. Subsequent important methods include monitoring of the methylation level of promoter regions in tumour suppressor genes and determination of telomeric-telomerase complex changes. Microarray platforms were brought to the forefront of molecular technologies at the beginning of the 21st century and enabled detection of the expression of thousands of genes simultaneously. At the same time, the role of non-coding RNAs such as miRNA and lncRNA became the focus of great interest. In recent years, revolutionary technology represented by massive parallel sequencing enabling sequencing of the whole human genome in a short time has been introduced. The results of this research, focusing on the study of mutations in various genes, are already being gradually incorporated in the routine molecular screening of MDS patients.

Key words:
myelodysplastic syndrome – molecular genetic methods


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Haematology Internal medicine Clinical oncology

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