Table 1.

Mutations in epigenetic‐associated genes and their current prognostic value in myeloid malignancies

Mutation	Area of regulation	MPN effect	Significance in MDS/AML
JAK2	Histone modification	Unknown	No data, rare event in de novo AML
TET2	DNA methylation	Poor risk, seen at leukaemic transformation	No clear significance in MDS Worse prognosis in normal karyotype AML
DNMT3A	DNA methylation	Unknown	Adverse prognosis
IDH1/2	DNA methylation	Poor risk at blast phase	No clear importance
ASXL1	Histone modification	Poor risk	Poor risk
EZH2	Histone modification	Unknown	Adverse outcome in CMML and AML
SF3B1	miRNA regulation	Unknown	Good prognosis, seen commonly in MDS‐RS
SRSF2	miRNA regulation	Poor risk	Worse prognosis, clustered in MDS with excess blasts
IKZF1	miRNA regulation	Poor risk	Unclear, possible link with AML Monosomy 7

JAK2, Janus kinase 2; TET2, Ten‐eleven translocation 2; DNMT3A, DNA methyltransferase 3A; IDH1/2, Dehydrogenase 1/2; ASXL1, Addition of sex combs like protein 1; EZH2, Enhancer of zeste homolog 2; SF3B1, Splicing factor 3 subunit 1; SRSF2, Serine and arginine splicing factor 2; IFZF1, IKAROS family zinc finger 1; RS, Ring sideroblasts.