Table 1.

In all types of myeloid malignancies, genetic alterations in epigenetic modifiers are found, however the mutation frequency varies between diseases. For references please see text.

Function	Gene	Loss/Gain of Function	Activity	Frequency in Myeloid Malignancies
DNA methylation	DNMT3A	loss	De novo DNA methylation	AML 12–22%
				MDS 5–10%
				CMML 5%
				MPN 7–15%
				ASM 1%
DNA methylation	TET2	loss	5-methyl-C to 5-hydroxy methyl-C	AML 7–23%
				MDS 20–25%
				CMML 60%
				MPN 4–13%
				ASM 40%
DNA methylation	IDH1/2	gain	Cofactor for TET2	AML 10–30%
				MDS 3%
				CMML 1–10%
				MPN 2.5–5%
Histone methylation	EZH2	Loss	Trimethylation of H3K27, part of PRC2 complex	AML rare
				MDS 6%
				CMML 5%
				MPN 3–13%
				ASM 3%
Histone methylation	ASXL1	loss	Associates with PRC1 and PRC2	AML 5%
				MDS 15–20%
				CMML 40–45%
				MPN 2–23%
				ASM 14%
Histone methylation	SUZ12	loss	Member of PRC2	MDS rare, <1%
Histone methylation	EED	loss	Member of PRC2	MDS rare, <1%
Histone methylation	KMT2A (MLL1)	gain	H3K4 lysine methyl transferase	AML 5%
				MDS/AML 5%
Histone methylation	MECOM (EVI1)	gain	H3K9(me1) lysine methyl transferase	MDS/AML rare
Histone methylation	PRDM16	gain	H3K9(me1) lysine methyl transferase	MDS/AML rare
Histone methylation	SETD2	loss	H3K36 lysine methyl transferase	AML 5%
Histone methylation	JARID2		Recruits PRC2 to target	sAML(from MDS, MPN) 6.5%
				MDS, MPN 0.2%
Histone methylation	UTX (=KDM6A)	loss	Counteracts PRC2 by removing di and trimethylated H3K27	AML 3%
				MDS 2.5%
				CMML 8%
				MDS/MPN 4.8%
Histone acetylation	CREBBP (CBP)	gain	Lysine acetyl transferase	AML rare
Histone acetylation	P300 (EP300)	gain	Lysine acetyl transferase	AML rare
Histone deacetylation	HDAC2	loss	Lysine deacetylase	AML rare
Histone deacetylation	HDAC3	loss	Lysine deacetylase	AML rare