Znaczenie mutacji genów modulujących zmiany epigenetyczne w ostrej białaczce szpikowej

The epigenetic regulation is a complex process that affects the gene expression. Recent studies revealed abberant DNA methylation patterns in acute myeloid leukemia (AML) patients suggesting the significant role of these alterations in leukemogenesis. Additionally, the next generation sequencing (NGS) technology uncover mutations of IDH1/2, TET2, DNMT3A and EZH2 genes involved in DNA methylation processes or post translational histone modifications. Although, the functional application and precise mechanism in which the mutations contribute to impaired haematopoesis remain elusive, emerging evidences indicate the complexity of epigenetic deregulation processes which cooperate with AML recurrent mutations leading to malignant transformation.