Table 1.
Mutations in CD19+ and CD34+ cell populations identified in 56 CLL patients
| ID | IGHV mutation status | Mutated gene | Exon | cDNA change | AA change | COSMIC ID | Mutational load CD19+ (%) | Presence in CD34+ cells* | Mutational load CD34+ (%) | CD19/CD34 ratio | Mutational pattern |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 51.0 | Yes | 31.0 | 1.6 | Maintained |
| 6 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 50.0 | Yes | 58.0 | 0.9 | Maintained |
| 8 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 97.5 | Yes | 79.5 | 1.2 | Maintained |
| 13 | Mutated | MYD88 | 4 | c.695T>C | p.M232T | COSM85942 | 34.0 | Yes | 22.5 | 1.5 | Maintained |
| 14 | Unmutated | TP53 | 5 | c.523C>G | p.R175G | COSM10870 | 87.5 | Yes | 12.0 | 7.3 | Decreased |
| 18 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 36.5 | Yes | 13.5 | 2.7 | Decreased |
| 19 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 10.0 | No | < 10 | – | – |
| 24 | Unmutated | SF3B1 | 16 | c.2225G>A | p.G742D | COSM145923 | 24.0 | No | < 10 | > 2.5 | Decreased |
| 21 | Unmutated | XPO1 | 15 | c.1711G>A | p.E571K | COSM96797 | 39.5 | Yes | 31.0 | 1.3 | Maintained |
| 25 | Mutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 3.0 | No | < 10 | – | – |
| 30 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 57.0 | Yes | 24.0 | 2.4 | Maintained |
| 31 | Mutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 4.5 | No | < 10 | – | – |
| 33 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 41.0 | Yes | 40.5 | 1.0 | Maintained |
| 34 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 50.0 | Yes | 51.5 | 0.9 | Maintained |
| 34 | Unmutated | XPO1 | 15 | c.1711G>A | p.E571K | COSM96797 | 24.5 | Yes | 24.5 | 1.0 | Maintained |
| 36 | Mutated | FBXW7 | 9 | c.1394G>T | p.R465L | COSM33762 | 39.0 | No | < 10 | > 2.5 | Decreased |
| 37 | Unmutated | XPO1 | 15 | c.1711G>A | p.E571K | COSM96797 | 50.5 | Yes | 38.5 | 1.3 | Maintained |
| 42 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 5.0 | No | < 10 | – | – |
| 43 | Unmutated | SF3B1 | 15 | c.2110A>T | p.I704F | COSM132954 | 47.5 | Yes | 45.0 | 1.1 | Maintained |
| 47 | Unmutated | XPO1 | 15 | c.1711G>A | p.E571K | COSM96797 | 2.5 | No | < 10 | – | – |
| 49 | Unmutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 55.0 | Yes | 56.0 | 0.9 | Maintained |
| 49 | Unmutated | XPO1 | 15 | c.1711G>A | p.E571K | COSM96797 | 42.5 | Yes | 31.5 | 1.4 | Maintained |
| 50 | Unmutated | FBXW7 | 9 | c.1268G>T | p.G423V | COSM1052095 | 8.0 | No | < 10 | – | – |
| 50 | Unmutated | SF3B1 | 14 | c.1874G>A | p.R625H | COSM255276 | 21.0 | No | < 10 | > 2.5 | Decreased |
| 52 | Mutated | NOTCH1 | 34 | c.7541_7542delCT | p.P2514Rfs*4 | COSM12774 | 16.0 | No | < 10 | > 2.5 | Decreased |
| 53 | Unmutated | SF3B1 | 14 | c.1996A>G | p.K666E | COSM110694 | 43.0 | Yes | 14.0 | 3.1 | Decreased |
| 53 | Unmutated | TP53 | 7 | c.734G>A | p.G245D | COSM43606 | 41.5 | Yes | 16.5 | 2.5 | Decreased |
| 57 | Mutated | FBXW7 | 9 | c.1394G>A | p.R465H | COSM22965 | 41.5 | Yes | 13.0 | 3.2 | Decreased |
*Only cases with > 10% CD34+ cells mutated were considered providing the purity for this cell fraction was higher than 90% in all the cases