Table 1.
Clinical relevance of mutated genes in MDS and CMML (Malcovati et al, 2013; Arber et al, 2016; Greenberg et al, 2017).
| Gene | MDS | CMML | ||
|---|---|---|---|---|
| Incidence | Clinical impact | Incidence | Clinical impact | |
| ASXL1 | 5–25% | Unfavourable | 40–50% | Unfavourable |
| CSNK1A1 |
<1% 5–15% MDS with del(5q) |
Uncertain Associated with del(5q) |
<1% | Unknown |
| DNMT3A | 12–18% | Unfavourable in patients without SF3B1 mutations | 2–10% | Uncertain |
| EZH2 | 5–10% | Unfavourable | 5–12% | Unfavourable |
| IDH1 | <5% | Uncertain | <1% | Uncertain |
| IDH2 | <5% | Uncertain | 5–10% | Unfavourable |
| JAK2 | <5% | MDS with del(5q), 5–7% | 2–10% | Associated with MP‐CMML |
| KRAS | 5–10% | Uncertain | 10–20% |
Unfavourable Associated with MP‐CMML |
| NRAS | 5–10% | Unfavourable | 10–20% |
Unfavourable Associated with MP‐CMML |
| RUNX1 | 10–15% |
Unfavourable Can be of germline origin |
10–30% | Unfavourable |
| SETBP1 | <5% | Unfavourable | 5–10% | Unfavourable |
| SF3B1 |
20–30% 80% MDS‐RS |
Associated with RS Favourable |
5–10% | Unknown |
| SRSF2 | 10–15% | Unfavourable | 30–50% | Uncertain |
| STAG2 | 5–10% | Unfavourable | 5–10% | Unfavourable |
| TET2 | 20–25% | Uncertain | 45–60% | Uncertain |
| TP53 | 8–12% |
Unfavourable Associated with CK (50%), del(5q) (15–20%) Lower response rate to lenalidomide Can be of germline |
<5% | Unfavourable |
| U2AF1 | 8–12% | Unfavourable | 5–10% | Unfavourable |
| ZRSR2 | 5–10% | Unfavourable | 5–10% | Uncertain |
CK, complex karyotype; CMML, chronic myelomonocytic leukaemia; HMA, hypomethylating agents; MDS, myelodysplastic syndrome; MDS‐RS, MDS with ring sideroblasts; MP‐CMML; myeloproliferative CMML; NK, normal karyotype; RS, ring sideroblasts.