Table 1.
CCND3 Mutations Identified in Pexidartinib Non-Responders
| SAMPLE ID | CHR | POSITION | GENE | cDNA CHANGE | PROTEIN CHANGE | DEPTH | VAF | EFFECT |
|---|---|---|---|---|---|---|---|---|
| 1_020_blasts | 6 | 41903765 | CCND3 | c.792C>A | p.S264R | 753 | 0.065450644 | Non synonymous codon |
| 6 | 41903710 | CCND3 | c.847A>G | p.T283A | 835 | 0.141187926 | Non synonymous codon | |
| 8_004_blasts (screen) | 6 | 41903731 | CCND3 | c.826C>T | p.Q276* | 1174 | 0.338524035 | Stop gained |
| 8_004_wholeblood (C2D1) | 6 | 41903731 | CCND3 | c.826C>T | p.Q276* | 1179 | 0.357380688 | Stop gained |
| 8_004_wholeblood (C4D1) | 6 | 41903731 | CCND3 | c.826C>T | p.Q276* | 1302 | 0.394010113 | Stop gained |
| 8_004_blasts (EOT) | 6 | 41903731 | CCND3 | c.826C>T | p.Q276* | 955 | 0.391138637 | Stop gained |