Table 1.
Genes recurrently mutated in primary or secondary myelodysplastic syndromes (MDS).
| Pathway/Functions | Gene Name |
|---|---|
| DNA methylation | TET2, DNMT3A, IDH1, IDH2 |
| Histone modification | ASXL1, KMT2, EZH2, SUZ12, JARID2, KDM6A, PHF6, EED, EP300 |
| RNA splicing | SF3B1, SRSF2, U2AF1, U2AF2, ZRSR2, SF1, PRPF8, LUC7L2, DDX41 |
| Cohesin complex | STAG2, RAD21, SMC3, SMC1A |
| Transcription factors | RUNX1, ETV6, GATA2, CUX1 IRF1, CEBPA, BCOR |
| Signal transduction | PTPN11, NF1, NRAS, KRAS, JAK2, MPL, KIT, FLT3, JAK2, CALR, CSF3R, CBL |
| p53 pathway | TP53, PPM1D |
| DNA repair | ATM, FANCA-L, BRCA2, RAD51 |
| Others | NPM1, SETBP1, WT1 |
Abbreviations: TET2: Ten-eleven translocation-2; DNMT: DNA methyl transferase; IDH: Isocitrate dehydrogenase; ASXL1: ASXL transcriptional regulator 1; KMT2: Histone–lysine N-methyltransferase; EZH2: Enhancer of zeste homolog 2; SUZ12: SUZ12 polycomb repressive complex 2 subunit; JARID2: Jumonji, AT rich interactive domain 2; KDM6A: Lysine demethylase 6A; PHF6: plant homeodomain (PHD) finger protein 6; EED: Embryonic ectoderm development protein; EP300: E1A binding protein P300; SF3B1: Splicing factor 3b subunit 1; SRSF2: Serine/arginine-rich splicing factor 2; U2F1/2: U2 small nuclear RNA auxiliary factor1/2; ZRSR2: Zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2; SF1: Splicing factor 1; PRPF8: Pre-MRNA processing factor 8; LUC7L2: LUC7 like 2, pre-MRNA splicing factor; STAG2: Stromal antigen 2; SMC3: Structural maintenance of chromosomes 3; RUNX1: Runt-Related Transcription Factor (RUNX) family transcription factor 1; ETV6: ETS variant transcription factor 6; GATA2: GATA binding protein 2; CEBPA: CCAAT enhancer binding protein alpha; IRF1: Interferon regulatory factor 1; BCOR: BCL6 corepressor; JAK2: Janus kinase 2; MPL: MPL proto-oncogene; CALR: Calreticuline; CSF3R: Colony stimulating factor 3 receptor; PTPN11: Protein tyrosine phosphatase non-receptor type 11; NF1: Neurofibromin 1; NRAS: neuroblastoma RAS viral oncogene homologue; CBL: Cbl proto-oncogene; PPM1D: Protein phosphatase, Mg2+/Mn2+ dependent 1D; ATM: Ataxia telangiectasia mutated; BRCA2: Breast cancer type 2 susceptibility protein; NPM1: Nucleophosmin 1; SETBP1: SET binding protein 1; WT1: Wilms’ tumor gene; DDX41: DEAD-box helicase 41; FLT3: FMS-like tyrosine kinase 3; PD-1: Programmed cell death 1; and CTLA4: Cytotoxic T-lymphocyte-associated protein 4.