| Summary: | DNA methylation is a well-established epigenetic mechanism regulating gene expression. It has essential functions in cells under physiological as well as pathological conditions. In acute myeloid leukemia (AML), aberrant DNA methylation has been confirmed in the pathogenesis and progression of the disease. Changes in DNA methylation of promoters, or other regions, are studied primarily with respect to pathways that are involved in tumor transformation and DNA methylation impact on prognosis. Clinical importance of DNA methylation has been confirmed by a number of recent publications. According to the Cancer Genome Atlas (TCGA) Research Network, mutations of genes involved in DNA methylation are found in 44% of AML patients at diagnosis. However, the impact of these mutations on specific DNA methylation and gene expression remains controversial. We examined 79 AML patients at diagnosis for DNA methylation of 12 selected genes (CDKN2B, CALCA, CDH1, ESR1, SOCS1, MYOD1, DAPK1, TIMP3, ICAM1, TERT, CTNNA1, EGR1) - some of them proved as tumor suppressor genes and 24 HOX genes, and in parallel for mutations in DNMT3A. We observed lower levels of DNA methylation (P<0.0001) as well as lower numbers of concurrently hypermethylated genes (P<0.0001) in patients with DNMT3A mutations. Our study of the impact of...
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