Table 1.
Somatic mutations in myeloproliferative neoplasms (MPN). Mutation frequencies are indicated for polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) [27,28]. JAK2, CALR, and MPL mutations are considered as driver mutations, while so-called high molecular risk (HMR) mutations confer adverse prognosis in myelofibrosis. BP-MPN blast phase MPN.
| Gene/Mutation | Chromosome | Mutational Frequency (%) | ||
|---|---|---|---|---|
| PV | ET | PMF | ||
| Driver mutations in MPN | ||||
| JAK2 V617F (exon 14) | 9p24 | 95 | 50–60 | 50–60 |
| JAK2 exon 12 mutations | 9p24 | 2–3 | - | - |
| CALR | 19p13.2 | <1 | 20–30 | 20–35 |
| MPL | 1p34 | <1 | 1–5 | 5–9 |
| High molecular risk (HMR) mutations in MF | ||||
| ASXL1 | 20q11.1 | 25–35 | ||
| EZH2 | 7q36.1 | 1–10 | ||
| SRSF2 | 17q25.1 | 10–18 (enriched in BP-MPN) |
||
| IDH1/IDH2 | 2q33.3/15q26.1 | 1–6 (enriched in BP-MPN) |
||
| Other mutations enriched in blast phase MPN | ||||
| TP53 | 17p13.1 | 1–5 (enriched in BP-MPN) |
||