Table-2.
somatic gene mutations in MDS/MPN
| Pathway | Gene | Frequency % | ||||
|---|---|---|---|---|---|---|
| CMML | JMML | aCML | MDS/MPN-U | RARS-T | ||
| Epigenetic | ||||||
| DNMT3A | 2 | 0 | 4 | 15 | ||
| TET-2 | 58 | 0 | 30 | 30 | 25 | |
| IDH 1/2 | 6 | 0 | 5–10 | |||
| ASXL-1 | 40 | 0 | 69 | 15 | ||
| EZH-2 | 5 | 0 | 13 | 10 | ||
| Signaling | ||||||
| RAS | 19 | 39 | 35 | 10 | ||
| JAK-2 | 8 | 0 | 4–8 | 57 | ||
| CBL | 10 | 15 | 8 | >10 | 4 | |
| SETBP1 | 6–15 | 8 | 48 | 10 | 1 | |
| CSF3R | <10 | |||||
| PTPN11 | 44 | |||||
| NF1 | 13 | |||||
| RNA Splicing | ||||||
| SF3B1 | 6 | 0 | 93 | |||
| SRSF2 | 46 | 0 | 7 | |||
| U2AF1 | 5 | 0 | ||||
| ZRSR2 | 8 | 0 | ||||
| Transcription | ||||||
| RUNX1 | 15 | 0 | 6 | 14 | ||
| CEBPA | 4–20 | 4 | 4 | |||