Table 1.
Known frequency of genetic mutations seen in MDS/MPN (% mutated)
| Gene | CMML21,30-32,45,55-57 | JMML26,27,58-61 | RARS-T29,36,62-64 | aCML35,54,65,66 | MDS/MPN-U46,53 | |
|---|---|---|---|---|---|---|
| Cell signaling | ||||||
| JAK2 V617F | 5-10 | — | 58.7 | 7 | — | |
| JAK3 | <1 | 9 | — | — | — | |
| CALR | — | — | 13 | — | — | |
| MPL | 0 | — | 2 | — | — | |
| NRAS | 4-10 | 12 | — | 8-35 | 2-14 | |
| KRAS | 7-10 | 12 | — | 2 | 0 | |
| PTPN11 | 2 | 40 | — | — | — | |
| NF1 | 1 | 11 | — | — | — | |
| FLT3 | <5 | — | — | — | — | |
| CSF3R | <5 | — | — | <10 | — | |
| CBL | 10-14 | 14 | — | 7 | 2 | |
| KIT | <1 | — | — | — | — | |
| Epigenetic regulators | ||||||
| TET2 | 50-60 | — | 9-26 | 25 | 18 | |
| ASXL1 | 35-40 | 4 | 10 | 25 | 14 | |
| DNMT3A | <5 | — | 17 | — | 3 | |
| IDH1 | <1 | — | — | — | 0 | |
| IDH2 | <1 | — | — | — | 0 | |
| UTX | 8 | — | — | — | — | |
| EZH2 | 5-13 | 0 | 25 | 13-15 | 6-10 | |
| SETBP1 | 5-10 | 7 | — | 25 | — | |
| RNA splicing | ||||||
| SF3B1 | 5-10 | — | 72 | — | 1 | |
| U2AF1 | 5 | — | — | — | 1 | |
| SRSF2 | 50 | — | — | — | 2 | |
| Other | ||||||
| NPM1 | <1-3 | — | — | — | — | |
| TP53 | 5 | — | — | — | 4 | |
| RUNX1 | 15 | — | — | 2 | — |