Table 4.
Shown is the frequency of driver and coexisting mutations for polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), sMF and leukemic transformation (LT). PV and ET are adapted from [7], PMF and sMF are adapted from [64], and LT is adapted from [61]. * Isocitrate Dehydrogenase 1 and 2 (IDH1 and IDH2) mutations were combined in the paper and have been reported as such. $ Chromosomal abnormalities that deregulate TP53 function have also been described, including amplification of MDM2 on chromosome 1 and 17p deletion. Abbreviations: NA, non applicable.
| Mutation Group | Gene | PV [7] | ET [7] | PMF [64] | sMF [64] | LT [61] |
|---|---|---|---|---|---|---|
| Driver Mutations | JAK2 | 98% | 52% | 62% | 81% | 60% |
| CALR | 0% | 26% | 22% | 14% | 21% | |
| MPL | 0% | 4% | 5% | 3% | 13% | |
| DNA Methylation | TET2 | 22% | 16% | 15% | 39% | 19% |
| DNMT3A | 2% | 6% | 9% | 5% | 3% | |
| IDH1 | 0% | 0% | 2% * | 1% * | 12% | |
| IDH2 | 2% | 1% | NA | NA | 7% | |
| Chromatin Modification | ASXL1 | 12% | 11% | 48% | 27% | 47% |
| EZH2 | 0% | 3% | 6% | 14% | 15% | |
| Spliceosome Complex | SRSF2 | 3% | 2% | 14% | 3% | 13% |
| U2AF1 | 0% | 1% | 17% | 7% | 5% | |
| SF3B1 | 3% | 5% | 13% | 5% | 7% | |
| Tumour Suppressor | TP53 $ | 1% | 2% | 6% | 14% | 16% |
| Transcription Regulator | RUNX1 | 2% | 2% | 3% | 3% | 17% |