Recommended panel of genic alterations mutations to explore in CMML
| Gene . | Percentage of mutated cases . | Diagnostic value . | Negative prognostic impact . | Reference . |
|---|---|---|---|---|
| TET2 mutations | 50-60 | Characteristic combination observed mainly in CMML | Not identified | |
| SRSF2 mutations | 40-50 | Low | 8 | |
| ASXL1 mutations | 35-45 | Strong | 8,11,34 | |
| RUNX1 mutations | 10-20 | Frequent thrombocytopenia | Intermediate | 8,11 |
| DNMT3A mutations | 5-10 | Intermediate | 147 | |
| SETBP1 mutations | 5-10 | Intermediate | 11,34 | |
| NRAS mutations | 10-20 | Mostly observed in MP-CMML | Intermediate | 8,11 |
| KRAS mutations | 5-10 | Not identified | ||
| CBL mutations | 10-15 | Low | 8,36 | |
| IDH2 mutation | 5 | Low | 8 | |
| IDH1 mutations | 1 | Not identified | ||
| SF3B1 mutations | 5-10 | Not identified | ||
| EZH2 mutations | 5 | Not identified | ||
| JAK2V617F mutation | 5 | Not identified | ||
| NPM1 mutations | 2-5 | Not identified |
| Gene . | Percentage of mutated cases . | Diagnostic value . | Negative prognostic impact . | Reference . |
|---|---|---|---|---|
| TET2 mutations | 50-60 | Characteristic combination observed mainly in CMML | Not identified | |
| SRSF2 mutations | 40-50 | Low | 8 | |
| ASXL1 mutations | 35-45 | Strong | 8,11,34 | |
| RUNX1 mutations | 10-20 | Frequent thrombocytopenia | Intermediate | 8,11 |
| DNMT3A mutations | 5-10 | Intermediate | 147 | |
| SETBP1 mutations | 5-10 | Intermediate | 11,34 | |
| NRAS mutations | 10-20 | Mostly observed in MP-CMML | Intermediate | 8,11 |
| KRAS mutations | 5-10 | Not identified | ||
| CBL mutations | 10-15 | Low | 8,36 | |
| IDH2 mutation | 5 | Low | 8 | |
| IDH1 mutations | 1 | Not identified | ||
| SF3B1 mutations | 5-10 | Not identified | ||
| EZH2 mutations | 5 | Not identified | ||
| JAK2V617F mutation | 5 | Not identified | ||
| NPM1 mutations | 2-5 | Not identified |
List of the frequent recurrently mutated genes in CMML cells. The definition of the negative prognostic impact of mutations as strong (red), intermediate (orange), low (green), or absent (white) is based on the concordance of the observations among studies.