Table 1.
Mutational landscape of myelofibrosis (MF), essential thrombocytopenia (ET), and polycythemia vera (PV).
| Ref | Gene | Function | Frequency % |
||
|---|---|---|---|---|---|
| MF | ET | PV | |||
| [30] | JAK2 | Tyrosine kinase | 55–60 | 50–60 | 95–97 |
| [31] | CALR | Endoplasmic chaperone | 25–30 | 20–25 | <1 |
| [32] | MPL | Growth factor receptor | 5–10 | 3–5 | <1 |
| [30] | SF3B1 | Splicing regulator | 5–10 | ~1 | ~1 |
| [33] | TP53 | DNA damage response | 2–4 | <1 | <1 |
| [34] | CBL | E3 ubiquitin ligase | 5–10 | 0–2 | Rare |
| [35] | DNMT3A | DNA methyltransferase | 5–12 | 1–5 | 5–10 |
| [35] | TET2 | Methylcytosine dioxygenase | 10–20 | 5 | 10–20 |
| [36] | EZH2 | Chromatin regulator | 5–10 | ~2 | ~2 |
| [37] | IDH1/2 | Isocitrate dehydrogenase | 3–5 | <1 | ~2 |
| [37] | ASXL1 | Chromatin regulator | 15–35 | 5–10 | 2–7 |