Somatic mutations associated with clinical outcomes in the current prognostic systems for MDS
| Mutation . | Bernard et al, IPSS-M68 Leukemia-free survival N = 2428 . | Bersanelli et al64 survival N = 2043 . | Nazha et al65 survival N = 479 . | |
|---|---|---|---|---|
| Incidence, % . | Hazard ratio∗ . | |||
| TP53multi-hit | 11 | 3.27 | +† | +‡ |
| MLLPTD | 2 | 2.22 | ||
| FLTITD+TKD | 1 | 2.22 | +§ | |
| SF3B15q | 1 | 1.66 | +‖ | |
| NPM1 | 1 | 1.54 | +§ | |
| RUNX1 | 16 | 1.53 | + | + |
| NRAS | 5 | 1.52 | + | + |
| ETV6 | 2 | 1.48 | ||
| IDH2 | 6 | 1.46 | + | |
| CBL | 6 | 1.34 | + | + |
| EZH2 | 7 | 1.31 | + | + |
| U2AF1 | 11 | 1.28 | +¶ | |
| SRSF2 | 18 | 1.27 | +# | + |
| DNMT3A | 19 | 1.25 | + | |
| ASXL1 | 30 | 1.24 | + | + |
| KRAS | 4 | 1.22 | + | |
| SF3B1α | 28 | 0.92 | + | + |
| STAG2 | +∗∗ | |||
| RAD21 | + | |||
| Mutation . | Bernard et al, IPSS-M68 Leukemia-free survival N = 2428 . | Bersanelli et al64 survival N = 2043 . | Nazha et al65 survival N = 479 . | |
|---|---|---|---|---|
| Incidence, % . | Hazard ratio∗ . | |||
| TP53multi-hit | 11 | 3.27 | +† | +‡ |
| MLLPTD | 2 | 2.22 | ||
| FLTITD+TKD | 1 | 2.22 | +§ | |
| SF3B15q | 1 | 1.66 | +‖ | |
| NPM1 | 1 | 1.54 | +§ | |
| RUNX1 | 16 | 1.53 | + | + |
| NRAS | 5 | 1.52 | + | + |
| ETV6 | 2 | 1.48 | ||
| IDH2 | 6 | 1.46 | + | |
| CBL | 6 | 1.34 | + | + |
| EZH2 | 7 | 1.31 | + | + |
| U2AF1 | 11 | 1.28 | +¶ | |
| SRSF2 | 18 | 1.27 | +# | + |
| DNMT3A | 19 | 1.25 | + | |
| ASXL1 | 30 | 1.24 | + | + |
| KRAS | 4 | 1.22 | + | |
| SF3B1α | 28 | 0.92 | + | + |
| STAG2 | +∗∗ | |||
| RAD21 | + | |||
Adjusted hazard ratio via Cox regression for the risk of leukemic transformation or death, adjusted for age, sex, and secondary/therapy-related vs primary MDSs. Mutations were also used for OS and generated 6 risk categories defining the IPSS-M: https://mds-riskmodel.com/. SF3B15q = SF3B1 mutation with isolated del(5q) or with 1 additional aberration excluding del(7q). SF3B1α= SF3B1 mutation without comutations in BCOR, BCORL1, RUNX1, NRAS, STAG2, SRSF2, or del(5q). Residual genes (Nres), the number of mutated genes in the following list: STAG2, BCOR, BCORL1, CEBPA, ETNK1, GATA2, GNB1, IDH1, NF1, PHF6, PPM1D, PRPF8, PTPN11, SETBP1, and WT1. This variable (≤2 genes) has a hazard ratio of 1.26.
Includes all TP53 mutations ± complex karyotype.
Includes all TP53 mutations.
With AML-like mutations.
SF3B1 with del5q and/or ASXL1 and/or RUNX1 mutations.
Associated with del(20q) and/or chromosome 7 abnormalities.
Associated with TET2 or separately with ASXL1, RUNX1, IDH2, and EZH2 mutations; https://mds.itb.cnr.it/#/mds.
Also present in the report by Bernard et al68 as a residual gene (Nres).