Table 1.
Examples of somatic mutations identified in AML and MDS.
| AML | MDS | Protein names | |
|---|---|---|---|
| Signal transduction (Class I) | FLT3 | FLT3 | Fms-related tyrosine kinase 3 |
| c-KIT | KIT proto-oncogene receptor tyrosine kinase | ||
| N-Ras, K-Ras | N-Ras, K-Ras | Neuroblastoma and Kirsten Rat Sarcoma Viral (V-Ras) Oncogene Homolog | |
| JAK2 | JAK2 | Janus Kinase 2 | |
| CBL | Casitas B-lineage lymphoma | ||
| Transcription (Class II) | CEBP α | CCAAT/enhancer-binding Protein alpha | |
| IKZF1 | IKAROS family zinc finger 1 | ||
| RUNX1 | RUNX1 | Runt-related transcription factor 1 (or AML1) | |
| PHF6 | PHD finger protein 6 | ||
| Epigenetic regulation | TET2 | TET2 | Ten eleven translocation methylcytosine Dioxygenase 2 |
| IDH1/2 | IDH1/2 | Isocitrate dehydrogenase-1 and -2 | |
| DNMT3A | DNMT3A | DNA methyltransferase 3A | |
| ASXL1 | ASXL1 | Additional sex combs like transcriptional regulator 1 | |
| EZH2 | EZH2 | Enhancer of Zeste Homolog 2 | |
| RNA splicing | U2AF1 | U2 small nuclear RNA auxiliary factor 1 | |
| SF3B1 | SF3B1 | Splicing factor 3b, subunit 1 | |
| SRSF2 | SRSF2 | Serine/arginine-rich splicing factor 2 | |
| ZRSR2 | Zinc finger (CCCH Type), RNA-binding motif, and serine-/arginine-rich 2 | ||
| Tumor suppressor | CDKN2A/B | Cyclin-dependent kinase inhibitor 2A | |
| TP53 | TP53 | Tumor Protein p53 | |
| WT1 | WT1 | Wilms Tumor 1 | |
| Other | SMC1A | Structural maintenance of chromosomes 1A | |
| NPM1 | NPM1 | Nucleophosmin |