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Mutations in epigenetic regulators – potential prognostic markers and therapeutic targets in acute myeloid leukaemia


Authors: J. Navrátilová;  B. Katrincsáková;  T. Szotkowski;  K. Indrák;  H. Urbánková;  T. Papajík
Authors‘ workplace: Hemato-onkologická klinika LF UP a FN Olomouc
Published in: Transfuze Hematol. dnes,28, 2022, No. 2, p. 85-91.
Category: Review/Educational Papers
doi: https://doi.org/10.48095/cctahd2022prolekare.cz6

Overview

Regulation of gene expression, especially in hematopoietic stem cells, plays an essential role in differentiation and other important processes of haematopoiesis. Pathogenesis of different malignant diseases is characterised by disruption of epigenetic regulation. Certain somatic mutations, including genes such as DNMT3A, TET2, IDH1, IDH2, ASXL1, MLL or EZH2, have been found in acute myeloid leukaemia, especially in patients with normal karyotype AML. These mutations are considered to be pre-leukemic events and are stable indicators of clinical course. In combination with driver mutations, they are suitable markers for monitoring minimal residual disease. Specific mutational profiles of individual patients could provide essential information about disease progression, relapse or achievement of complete remission. The aim of this article is to review current knowledge regarding the clinical and therapeutical value of mutations in selected genes involved in epigenetic regulation of gene expression in acute myeloid leukaemia.

Keywords:

Prognosis – acute myeloid leukaemia – epigenetic mutations – epigenetic regulators


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Haematology Internal medicine Clinical oncology
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