Hypermethylation in the promoter of PRDM16 is associated with decreased survival in AML patients Public Deposited
Acute Myeloid Leukemia (AML) is the most common acute adult leukemia, accounting for approximately 1% of all new cancers in 2018. DNA methylation is an epigenetic modification that has been shown to play a strong role in the development and progression of AML. Disruption of DNA methylation in patients is often due to somatic mutations of epigenetic modifier genes (e.g. (DNMT3A, TET2, IDH1/2, WT1, EZH2, ASXL1). Typically, studies of DNA methylation in AML and other cancers focus on regions of differential methylation (DMRs) between cancer patients and their healthy counterparts. Using the data from The Cancer Genome Atlas study on 194 AML patients, we investigated differential methylation between patients with and without mutations of the epigenetic modification genes commonly mutated in AML. We identified 20,567 differentially methylated probes within 2,893 DMRs and analyzed the affected regions for involvement in AML. In particular, we identified a region within the promoter of PRDM16 which, when hypermethylated, is associated with decreased survival (p = 0.017). In conclusion, we find DMRs between AML patients with and without somatic mutations of epigenetic modification genes that affect biologically relevant pathway and show association with the development and progression of AML.