Table 2. Somatic Mutations in MDS.
| Mutation | Frequency | Prognostic impact | Comments | |
|---|---|---|---|---|
| DNA methylation | ||||
| TET2 | 20-30% MDS 20-43% MDS/MPN |
Unfavorable in CMML | More favorable in AML | |
| DNMT3A | 3-8% | Unfavorable | ||
| IDH1/2 | <5% | Unfavorable | IDH1 associated with worse prognosis | |
|
| ||||
| Chromatin modification | ||||
| ASXL1 | 17% MDS 50% MDS/MPN |
Unfavorable | ||
| EZH2 | 6% | Unfavorable | ||
|
| ||||
| Spliceosome machinery | ||||
| SF3B1 | 30% | Favorable | Frequent in RARS and RCMD-RS | |
| U2AF1 | 10% | Unfavorable | ||
| SRSF2 | 15% | Unfavorable | ||
| ZRSR2 | 10% | Unknown | ||
|
| ||||
| RAS signaling | ||||
| KRAS | <2% | Unknown | ||
| PTPN11 | <1% | Unknown | ||
| NF1 | <1% | Unknown | ||
|
| ||||
| Cohesin | ||||
| STAG2 | 5% | Unknown | ||
| RAD21 | <1% | Unknown | ||
| SMC3 | <1% | Unknown | ||
|
| ||||
| Others | ||||
| BCOR/BCROL1 | 4% | Unfavorable | ||
| ETV6 | 3% | Unfavorable | ||
| RUNX1 | 10-15% | Unfavorable | ||
| p53 | 10-15% | Unfavorable | ||
| JAK2 | 3% | Unknown | Frequent in RARS-t | |
| c-CBL | 1% | Unfavorable | Frequent in CMML | |
| MPL | 1% | Unknown | Associated with ET and MF | |
| SETBP1 | 4-25% | Unfavorable | Frequent in aCML and CMML | |
RARS Refractory anemia with ringed sideroblasts
RCMD-RS Refractory cytopenias with multilineage dysplasia with ringed sideroblasts
RARS-T Refractory anemia with ringed sideroblasts associated with thrombocytosis
CMML Chronic myelomonocytic leukemia
aCML Atypical chronic myeloid leukemia
ET Essential thrombocythemia
PV Polycythemia vera