Clonal landscape and frequency of mutated genes
| Mutation . | All patients, N = 340 (100%) . | MDS-CMML, n = 173 (51%) . | MPN-CMML, n = 167 (49%) . | P value∗ . |
|---|---|---|---|---|
| DNA methylation, n (%) | ||||
| TET2 | 216 (63.5) | 122/173 (70.5) | 94/167 (56.3) | .006 |
| DNMT3A | 24 (7.1) | 10/173 (5.8) | 14/167 (8.4) | .349 |
| IDH1 | 5 (1.5) | 3/173 (1.7) | 2/167 (1.2) | .681 |
| IDH2 | 12 (3.5) | 8/173 (4.6) | 4/167 (2.4) | .265 |
| RNA splicing, n (%) | ||||
| SRSF2 | 138 (40.6) | 70/173 (40.4) | 68/167 (40.7) | .962 |
| SF3B1 | 26 (7.7) | 17/173 (9.8) | 9/167 (5.4) | .124 |
| U2AF1 | 26 (7.7) | 12/173 (6.9) | 14/167 (8.4) | .616 |
| ZRSR2 | 20 (5.9) | 15/173 (8.7) | 5/167 (3.0) | .026 |
| Chromatin modification, n (%) | ||||
| ASXL1 | 135 (39.7) | 43/173 (24.9) | 92/167 (55.1) | <.001 |
| EZH2 | 36 (10.6) | 13/173 (7.5) | 23/167 (13.8) | .061 |
| PHF6 | 11 (3.2) | 5/173 (2.9) | 6/167 (3.6) | .714 |
| Transcription, n (%) | ||||
| RUNX1 | 66 (19.4) | 29/173 (16.8) | 37/167 (22.2) | .209 |
| ETV6 | 15 (4.4) | 7/173 (4.0) | 8/167 (4.8) | .738 |
| RAS signaling, n (%) | ||||
| NRAS | 54 (15.9) | 20/173 (11.6) | 34/167 (20.4) | .026 |
| CBL | 46 (13.5) | 16/173 (9.2) | 30/167 (18.0) | .019 |
| Others, n (%) | ||||
| SETBP1 | 26 (7.7) | 6/173 (3.5) | 20/167 (12.0) | .003 |
| NPM1 | 4 (1.2) | 2/173 (1.2) | 2/167 (1.2) | .972 |
| Cytokine receptor/tyrosine kinase, n (%) | ||||
| JAK2 | 23 (6.8) | 9/173 (5.2) | 14/167 (8.4) | .243 |
| KIT | 15 (4.4) | 4/173 (2.3) | 11/167 (6.6) | .055 |
| MPL | 6 (1.8) | 4/173 (2.3) | 2/167 (1.2) | .435 |
| Checkpoint cycle, n (%) | ||||
| TP53 | 10 (2.9) | 4/173 (2.3) | 6/167 (3.6) | .485 |
| Mutation . | All patients, N = 340 (100%) . | MDS-CMML, n = 173 (51%) . | MPN-CMML, n = 167 (49%) . | P value∗ . |
|---|---|---|---|---|
| DNA methylation, n (%) | ||||
| TET2 | 216 (63.5) | 122/173 (70.5) | 94/167 (56.3) | .006 |
| DNMT3A | 24 (7.1) | 10/173 (5.8) | 14/167 (8.4) | .349 |
| IDH1 | 5 (1.5) | 3/173 (1.7) | 2/167 (1.2) | .681 |
| IDH2 | 12 (3.5) | 8/173 (4.6) | 4/167 (2.4) | .265 |
| RNA splicing, n (%) | ||||
| SRSF2 | 138 (40.6) | 70/173 (40.4) | 68/167 (40.7) | .962 |
| SF3B1 | 26 (7.7) | 17/173 (9.8) | 9/167 (5.4) | .124 |
| U2AF1 | 26 (7.7) | 12/173 (6.9) | 14/167 (8.4) | .616 |
| ZRSR2 | 20 (5.9) | 15/173 (8.7) | 5/167 (3.0) | .026 |
| Chromatin modification, n (%) | ||||
| ASXL1 | 135 (39.7) | 43/173 (24.9) | 92/167 (55.1) | <.001 |
| EZH2 | 36 (10.6) | 13/173 (7.5) | 23/167 (13.8) | .061 |
| PHF6 | 11 (3.2) | 5/173 (2.9) | 6/167 (3.6) | .714 |
| Transcription, n (%) | ||||
| RUNX1 | 66 (19.4) | 29/173 (16.8) | 37/167 (22.2) | .209 |
| ETV6 | 15 (4.4) | 7/173 (4.0) | 8/167 (4.8) | .738 |
| RAS signaling, n (%) | ||||
| NRAS | 54 (15.9) | 20/173 (11.6) | 34/167 (20.4) | .026 |
| CBL | 46 (13.5) | 16/173 (9.2) | 30/167 (18.0) | .019 |
| Others, n (%) | ||||
| SETBP1 | 26 (7.7) | 6/173 (3.5) | 20/167 (12.0) | .003 |
| NPM1 | 4 (1.2) | 2/173 (1.2) | 2/167 (1.2) | .972 |
| Cytokine receptor/tyrosine kinase, n (%) | ||||
| JAK2 | 23 (6.8) | 9/173 (5.2) | 14/167 (8.4) | .243 |
| KIT | 15 (4.4) | 4/173 (2.3) | 11/167 (6.6) | .055 |
| MPL | 6 (1.8) | 4/173 (2.3) | 2/167 (1.2) | .435 |
| Checkpoint cycle, n (%) | ||||
| TP53 | 10 (2.9) | 4/173 (2.3) | 6/167 (3.6) | .485 |
Statistically significant results (P < .05) are shown in bold.
Χ2 test.