THE SIGNIFICANCE OF MOLECULAR GENETIC FACTORS IN RISK STRATIFICATION IN PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA (Literature review).

Abstract

Essential thrombocythemia (ET) is a Ph-negative myeloproliferative disease (MPD) and is considered a pathology of clonal hematopoietic stem cells that leads to an overproduction of platelets. The main hypothesis is the polyetiological nature of the appearance of the disease, where the tendency to the disease is realized under the influence of external factors that lead to damage to the genome of a normal cell and become the cause of its malignant transformation.
Molecular genetic studies of JAK2 V617F, JAK2 exon12, MPL W515K/L, and CALR mutations play an important role in the diagnosis of traditional Ph-negative MPDs. However, genes that control intracellular signaling, chromatin remodeling, DNA methylation, oncogenes, and tumor suppressors are involved in the emergence and development of these diseases. This review describes the current understanding of molecular genetic disorders that are the causes of risk and have a significant impact on the development of thrombotic and hemorrhagic complications in MPD, and in particular, ET.