Gene mutation profiles for MDS/MPNs, MDS, and MPN [modified from 5, 27, 28].
| Functional class | Gene | CMML | JMML | aCML | MDS/MPN-RS-T | MDS/MPN-U | MDS | MPN |
|---|---|---|---|---|---|---|---|---|
| Epigenetic regulation | 50–60% | 0 | 20–40% | 10–25% | 20–25% | 20–30% | 10–20% | |
| <5% | Rare | ∼5% | ∼15% | 5–10% | ∼10% | 5–10% | ||
| 40–45% | ∼5% | ∼30% | 15–30% | 30–50% | 15–20% | PMF 25%, | ||
| ET/PV 1–3% | ||||||||
| 5–10% | <5% | ∼20% | ∼5% | ∼15% | 5–10% | PMF 5–10% | ||
| <5% | 0 | <5% | <5% | ∼5% ( |
1–3% | |||
| ∼5% | 0 | <5% | <5% | <5% | ∼5% ( |
1–3% | ||
| RNA splicing | 45–50% | 0 | 30–40% | 5–10% | ∼25% | ∼15% | PMF 10–15%, | |
| ET <2% | ||||||||
| ∼5% | 5–10% | 80–90% | 10–15% | 20–30% | ET <3% | |||
| 5–10% | 5–10% | ∼5% | 10–15% | 5–10% | PMF 10–15% | |||
| 5–10% | <5% | <5% | <5% | 5–10% | 5–10% | |||
| Cell signaling | 20–30% | 25–35% | 25–35% | Rare | 10–15% | ∼5% ( |
NRAS: PMF Rare | |
| 5–10% | 0 | ∼5% | ∼50% | ∼25% | PV 95%, | |||
| PMF and ET 50–60% | ||||||||
| 5–15% | ||||||||
| 10–20% | 10–15% | 5–10% | <5% | ∼5% | ∼5% | PMF 4% | ||
| <5% | 35–45% | <5% | <5% | |||||
| Rare | 10–15% | Rare | PMF Rare | |||||
| Rare | <5% | ∼5% | PMF 25–30%, | |||||
| ET 20–25% | ||||||||
| <5% | ∼5% | ET 2–3%, | ||||||
| PMF 3–5% | ||||||||
| <5% | 5–10% | Rare | <5% | |||||
| <5% | <5% | <5% | <3% | |||||
| Transcription | 10–20% | <5% | 10–20% | <5% | 5–10% | ∼10% | <3% (sAML 10%) | |
| <5% | 4% | <5% | ||||||
| <5% | <5% | <5% | <3% | |||||
| Rare | Rare | Rare | 8–9% | 5–10% | <5% (sAML 20%) | |||
| Rare | ||||||||
| Cohesin complex | <10% | 5–10% | 5–7% | |||||
| Others | <5% | ∼8% | Rare | <5% | ||||
| 5–10% | 5–15% | 25–40% | ∼10% | 10–15% | ||||
| <5% | Rare | 0 | <5% |
a)These genes are also reported to be mutated in clonal hematopoietic cells in a subset of healthy individuals (clonal hematopoiesis of indeterminate potential).
Abbreviations: aCML, atypical chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; ET, essential thrombocythemia; JMML, juvenile myelomonocytic leukemia; MDS, myelodysplastic syndrome; MDS/MPN, myelodysplastic/myeloproliferative neoplasm; MDS/MPN-RS-T, MDS/MPN with ring sideroblasts and thrombocytosis; MDS/MPN-U, MDS/MPN unclassifiable; MPN, myeloproliferative neoplasm; PMF, primary myelofibrosis; PV, polycythemia vera; sAML, secondary acute myeloid leukemia.
Unknown 
< 10% 
10-20% 
20-30% 
30-50% 
>50%