Table 2.
The most common gene mutations in MDS and the prognostic values
| Epigenetic Regulators | Prognostic Impact |
Comments |
|---|---|---|
| TET2 | worse | associated with higher response to HMA; inferior post HCT outcomes |
| EZH2 | worse | |
| ASXL1 | worse | Associated with lower response to HMA |
| DNMT3A | worse | Inferior outcomes after HSCT |
| IDH1/IDH2 | unknown | Substrate for potential targeted therapy with enasidenib |
| Spliceosomal genes | ||
| SF3B1 | better | Associated with ring sideroblasts and IST non-response |
| U2AF1 | worse | |
| SRSF2 | worse | |
| ZRSR2 | unknown | |
| Cytoplasmic tyrosine kinases | ||
| JAK2 | worse | Inferior outcomes after HSCT |
| Signaling molecules | ||
| SETBP1 | worse | |
| NRAS | worse | Inferior outcomes after HSCT |
| Transcriptional factors | ||
| ETV6 | worse | |
| RUNX1 | worse | |
| Tumor suppressors | ||
| TP53 | worse | Higher risk for leukemia transformation with lenalidomide; worse post HSCT outcomes |
| ROBO1/ROBO2 | worse | |
| Chromatid cohesion | ||
| STAG2 | worse | |
HMA: hypomethylating agents; HSCT: hemopoietic stem cell transplantation