Skip to main content

Table 2 Functional categories of genes that are commonly mutated in acute myeloid leukemia (AML)

From: Genomic landscape in acute myeloid leukemia and its implications in risk classification and targeted therapies

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