Summary of prognostic mutations in MPNs
| Notes . | Frequencies in MPNs . | References . |
|---|---|---|
| Canonical MPN mutations | ||
| CALR mutation | ||
| Absence of type 1/like CALR mutation associated with inferior outcomes in PMF and SMF Presence of CALR mutation associated with improved OS in MPN patients undergoing allo-HCT | PMF: 20-25% ET: 20-25% MPN-AP/BP: 13%-20% | 14, 18, 24, 29, 30, 40, 47, 48, 57 |
| DNA methylation | ||
| IDH1/2 mutation | ||
| IDH1 associated with inferior LFS in PMF IDH2 associated with inferior LFS in PV IDH2 associated with inferior OS in ET IDH2 associated with inferior LFS in PMF IDH2 associated with inferior RFS in MPN patients undergoing allo-HCT | PV: 3% PMF: 6% ET: 9% MPN-AP/BP: 19%-26% | 12, 24, 30, 40, 47, 48, 57 |
| Chromatin modification | ||
| ASXL1 mutation | ||
| Associated with inferior OS in PV Associated with inferior OS and LFS in PMF Associated with inferior RFS in MPN patients undergoing allo-HCT | PV: 7% PMF: 30% ET: 2% MPN-AP/BP: 25%-47% | 12, 14, 24, 40, 47, 48, 57 |
| EZH2 mutation | ||
| Associated with inferior OS and LFS in PMF | PV: 2% PMF: 5%-7% ET: 1% MPN-AP/BP: 7%-15% | 12, 24, 40, 47, 48 |
| Signaling | ||
| SH2B3 mutation | ||
| Associated with inferior OS in ET | PV: 5% ET: 2% MPN-AP/BP: 2%-11% | 24, 40, 47, 48, 57 |
| Splicing | ||
| SRSF2 mutation | ||
| Associated with inferior OS, LFS, and MFS in PV Associated with inferior OS and LFS in PMF | PV: 3% PMF: 9%-14% ET: 2% MPN-AP/BP: 13%-22% | 12, 24, 40, 47, 48, 57 |
| SF3B1 mutation | ||
| Associated with inferior LFS and MFS in ET | PV: 10% PMF: 9%-14% ET: 5% MPN-AP/BP: 7% | 24, 40, 47, 48, 57 |
| U2AF1 mutation | ||
| Associated with inferior MFS in ET Associated with inferior OS in PMF Associated with inferior OS and RFS in MPN patients undergoing allo-HCT | PV: 7% PMF: 5%-20% MPN-AP/BP: 5% | 13, 24, 32, 40, 47, 48, 57 |
| DNA repair | ||
| TP53 mutation | ||
| Associated with inferior LFS in ET | PV: 5% PMF: 5% ET: 6% MPN-AP/BP: 16%-36% | 24, 40, 47, 48, 57 |
| Notes . | Frequencies in MPNs . | References . |
|---|---|---|
| Canonical MPN mutations | ||
| CALR mutation | ||
| Absence of type 1/like CALR mutation associated with inferior outcomes in PMF and SMF Presence of CALR mutation associated with improved OS in MPN patients undergoing allo-HCT | PMF: 20-25% ET: 20-25% MPN-AP/BP: 13%-20% | 14, 18, 24, 29, 30, 40, 47, 48, 57 |
| DNA methylation | ||
| IDH1/2 mutation | ||
| IDH1 associated with inferior LFS in PMF IDH2 associated with inferior LFS in PV IDH2 associated with inferior OS in ET IDH2 associated with inferior LFS in PMF IDH2 associated with inferior RFS in MPN patients undergoing allo-HCT | PV: 3% PMF: 6% ET: 9% MPN-AP/BP: 19%-26% | 12, 24, 30, 40, 47, 48, 57 |
| Chromatin modification | ||
| ASXL1 mutation | ||
| Associated with inferior OS in PV Associated with inferior OS and LFS in PMF Associated with inferior RFS in MPN patients undergoing allo-HCT | PV: 7% PMF: 30% ET: 2% MPN-AP/BP: 25%-47% | 12, 14, 24, 40, 47, 48, 57 |
| EZH2 mutation | ||
| Associated with inferior OS and LFS in PMF | PV: 2% PMF: 5%-7% ET: 1% MPN-AP/BP: 7%-15% | 12, 24, 40, 47, 48 |
| Signaling | ||
| SH2B3 mutation | ||
| Associated with inferior OS in ET | PV: 5% ET: 2% MPN-AP/BP: 2%-11% | 24, 40, 47, 48, 57 |
| Splicing | ||
| SRSF2 mutation | ||
| Associated with inferior OS, LFS, and MFS in PV Associated with inferior OS and LFS in PMF | PV: 3% PMF: 9%-14% ET: 2% MPN-AP/BP: 13%-22% | 12, 24, 40, 47, 48, 57 |
| SF3B1 mutation | ||
| Associated with inferior LFS and MFS in ET | PV: 10% PMF: 9%-14% ET: 5% MPN-AP/BP: 7% | 24, 40, 47, 48, 57 |
| U2AF1 mutation | ||
| Associated with inferior MFS in ET Associated with inferior OS in PMF Associated with inferior OS and RFS in MPN patients undergoing allo-HCT | PV: 7% PMF: 5%-20% MPN-AP/BP: 5% | 13, 24, 32, 40, 47, 48, 57 |
| DNA repair | ||
| TP53 mutation | ||
| Associated with inferior LFS in ET | PV: 5% PMF: 5% ET: 6% MPN-AP/BP: 16%-36% | 24, 40, 47, 48, 57 |
LFS, leukemia-free survival; MFS, myelofibrosis-free survival. See Tables 2 and 3 for expansion of other abbreviations.