Table 2.

Functional categories of genes that are commonly mutated in acute myeloid leukemia (AML)

Functional category	Gene members	Role in AML Leukemogenesis
Myeloid transcription-factor genes	Transcription factor fusions by chromosomal rearrangements, such as t(8;21)(q22;q22); RUNX1-RUNX1T1 and inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 GATA2, RUNX1 and CEBPA	Transcriptional deregulation and impaired hematopoietic differentiation.
Nucleophosmin (NPM1) gene	NPM1	Aberrant cytoplasmic localization of NPM1 and its interacting proteins
Tumor suppressor genes	TP53, WT1, PHF6	Transcriptional deregulation and impaired degradation via the negative regulator (MDM2 and PTEN oncogenes)
Signaling genes	FLT3, KIT, PTPN11, RAS	Proliferative advantage through the RAS-RAF, JAK-STAT, and PI3K-AKT signaling pathways
DNA methylation	DNMT3A, TET2, IDH1, IDH2	Deregulation of DNA methylation and oncometabolite production
Chromatin modifier	ASXL1, EZH2 and KMT2A	Deregulation of chromatin modification and impairment of methyltransferases function
Cohesin complex	STAG1, STAG2, RAD21, SMC1A, SMC3,	Impairment of accurate chromosome segregation and transcriptional regulation
Splicing factors	SRSF2, SF3B1, U2AF1, ZRSR2	Deregulated RNA processing and aberrant splicing patterns