Fig. 2

Epigenetic regulators of clonal hematopoiesis. a Schematic representation of major epigenetic regulators involved in clonal hematopoiesis and age-associated myeloid malignancies. Mutation phenotypes of DNMT3A, TET2, and ASXL1 are summarized. 5-mC, 5-methylcytosine; 5-hmC, 5-hydroxymethylcytosine; H3K27me3, trimethylated H3 at lysine 27. b Age-associated clonal hematopoiesis. Age-related clonal hematopoiesis (ARCH)/clonal hematopoiesis of indeterminate potential (CHIP) is asymptomatic clonal hematopoiesis characterized mainly by mutations in TET2, DNMT3A, or ASXL1. ARCH/CHIP may progress with additional mutations such as RUNX1, EZH2, and IDH1/2 to MDS and ultimately AML. ARCH/CHIP may also progress directly to AML without an intervening MDS stage or to other conditions such as myeloproliferative neoplasms or lymphoid neoplasms. AML, acute myeloid leukemia; MDS, myelodysplastic syndrome; PRC, polycomb repressive complex