Table 4.
Overall incidence of cytogenetic/molecular lesions in MDS and CMML patients at diagnosis.
| Overall Frequency in MDS Cases (%) § | Overall Frequency in CMML Cases (%) § | ||
|---|---|---|---|
| Clonal Cytogenetic Abnormalities by Metaphase Karyotyping | 50–60 | 10–40 | |
| Recurrently Mutated Genes | |||
| Epigenetic regulators | TET2 | 20–25 * | 30–60 ^ |
| ASXL1 | 5–25 * | 40–50 ^ | |
| DNMT3A | 2–18 * | 2–12 | |
| EZH2 | 5–10 | 5–12 | |
| IDH1 | <5 | 1–2 | |
| IDH2 | <5 | 6–7 | |
| BCOR | <5 | 5–10 | |
| Spliceosome | SF3B1 | 20–30 * | 5–10 |
| SRSF2 | 10–15 * | 30–50 ^ | |
| U2AF1 | 8–12 | 5–10 | |
| ZRSR2 | 5–10 | 5–10 | |
| Signal transduction | NRAS | 5–10 | 10–20 |
| KRAS | 5–10 | 10–20 | |
| CBL | <5 | 10–20 | |
| NF1 | <5 | 5–10 | |
| JAK2 | <5 | 1–10 | |
| FLT3 | <5 | 1–3 | |
| DNA damage/Cell cycle regulators | TP53 | 8–12 | <5 |
| PHF6 | <5 | <5 | |
| Chromosome topology | Cohesin complex (mostly STAG2) | 5–10 | 5–10 |
| Transcription factors | RUNX1 | 10–15 | 10–30 |
| SETBP1 | <5 | 5–20 | |
| ETV6 | 2 | <1 | |
| NPM1 | 2 | 3 | |
MDS, myelodysplastic syndrome; CMML, chronic myelomonocytic leukemia. § A median of three gene mutations (range 0–17) per case are found in MDS patients, while an average of 10–15 somatic mutations can be detected in CMML patients. * Most frequent gene mutations documented in MDS cases at diagnosis. ^ Most frequently observed gene mutations in CMML patients at diagnosis.