Table 1.
Currently Known Mutations in BCR-ABL1-Negative Myeloproliferative Neoplasms
| Mutations | Chromosome location | Mutational frequency, % |
|---|---|---|
| JAK2 | 9p24 | |
| PV | ∼964 | |
| ET | ∼554 | |
| PMF | ∼654 | |
| BP-MPN | ∼504 | |
| JAK2 exon 12 mutation [4] | 9p24 | |
| PV | ∼34 | |
| MPL | 1p34 | |
| ET | ∼34 | |
| PMF | ∼104 | |
| BP-MPN | ∼54 | |
| LNK | 12q24.12 | |
| PV | Rare20,21 | |
| ET | Rare19,20 | |
| PMF | Rare19,20 | |
| BP-MPN | ∼1020 | |
| TET2 | 4q24 | |
| PV | ∼164 | |
| ET | ∼54 | |
| PMF | ∼174 | |
| BP-MPN | ∼174 | |
| ASXL1 | 20q11.1 | |
| ET | ∼332 | |
| PMF | ∼13 | |
| BP-MPN | ∼18 | |
| IDH1/IDH2 | 2q33.3/15q26.1 | |
| PV | ∼224 | |
| ET | ∼124 | |
| PMF | ∼424 | |
| BP-MPN | ∼2024 | |
| EZH2 | 7q36.1 | |
| PV | ∼334 | |
| PMF | ∼7 | |
| DNMT3A | 2p23 | |
| PV | ∼735 | |
| PMF | ∼735,36 | |
| BP-MPN | ∼1435,36 | |
| CBL | 11q23.3 | |
| PV | Rare22 | |
| ET | Rare22 | |
| MF | ∼622 | |
| IKZF1 | 7p12 | |
| CP-MPN | Rare27 | |
| BP-MPN | ∼1927 |
BP-MPN, blast-phase MPN; CP-MPN, chronic phase MPN; MF, both PMF and post-ET/PV myelofibrosis.