Table 1. Major driver genes... | American Society of Hematology

Table 1.

Major driver genes

Pathway/functions	Driver genes
DNA methylation	DNMT3A, TET2, IDH1,*IDH2,* and WT1
Chromatin modification	EZH2, SUZ12, EED, JARID2, ASXL1, KMT2, KDM6A, ARID2, PHF6, and ATRX
RNA splicing	SF3B1, SRSF2, U2AF1, U2AF2, ZRSR2, SF1, PRPF8, LUC7L2
Cohesin complex	STAG2, RAD21, SMC3, and SMC1A (PDS5B, CTCF, NIPBL, and ESCO2)
Transcription	RUNX1,†ETV6,†GATA2,†IRF1, CEBPA, BCOR, BCORL1, NCOR2, and CUX1
Cytokine receptor/tyrosine kinase	FLT3, KIT, JAK2, and MPL, CALR, and CSF3R
RAS signaling†	PTPN11, NF1, NRAS, KRAS, and CBL (RIT1 and BRAF)
Other signaling	GNAS, GNB1, FBWX7, and PTEN
Checkpoint/cell cycle	TP53 and CDKN2A
DNA repair	ATM, BRCC3, and FANCL
Others	NPM1, SETBP1, and DDX41†

Pathway/functions	Driver genes
DNA methylation	DNMT3A, TET2, IDH1,*IDH2,* and WT1
Chromatin modification	EZH2, SUZ12, EED, JARID2, ASXL1, KMT2, KDM6A, ARID2, PHF6, and ATRX
RNA splicing	SF3B1, SRSF2, U2AF1, U2AF2, ZRSR2, SF1, PRPF8, LUC7L2
Cohesin complex	STAG2, RAD21, SMC3, and SMC1A (PDS5B, CTCF, NIPBL, and ESCO2)
Transcription	RUNX1,†ETV6,†GATA2,†IRF1, CEBPA, BCOR, BCORL1, NCOR2, and CUX1
Cytokine receptor/tyrosine kinase	FLT3, KIT, JAK2, and MPL, CALR, and CSF3R
RAS signaling†	PTPN11, NF1, NRAS, KRAS, and CBL (RIT1 and BRAF)
Other signaling	GNAS, GNB1, FBWX7, and PTEN
Checkpoint/cell cycle	TP53 and CDKN2A
DNA repair	ATM, BRCC3, and FANCL
Others	NPM1, SETBP1, and DDX41†

Mutant IDH1 and IDH2, but not unmutated forms, affect DNA methylation.

Germline variants are implicated in the predisposition to AML/MDS.