Targeted deep sequencing results for BTK, PLCγ2, and CARD11 mutations in WM patients
| Patient . | BTKCys481Arg(T>C) . | BTKCys481Ser(T>A) . | BTKCys481Ser(G>C) . | BTKCys481Tyr(G>A) . | PLCγ2Tyr495His(T>C) . | CARD11Leu878Phe(C>T) . |
|---|---|---|---|---|---|---|
| WM1 | ND | ND | ND | ND | ND | ND |
| WM2 | 32.4% | 6.6% | 5.8% | 1.0% | ND | ND |
| WM3 | 0.3% | 34.4% | 6.5% | 0.3% | ND | 0.2% |
| WM4 | ND | ND | ND | ND | ND | ND |
| WM5 | ND | ND | ND | ND | ND | ND |
| WM6 | ND | ND | 10.3% | ND | 11.9% | ND |
| WM7 | ND | ND | 1.5% | ND | ND | ND |
| WM8 | ND | ND | 0.7% | ND | ND | ND |
| Patient . | BTKCys481Arg(T>C) . | BTKCys481Ser(T>A) . | BTKCys481Ser(G>C) . | BTKCys481Tyr(G>A) . | PLCγ2Tyr495His(T>C) . | CARD11Leu878Phe(C>T) . |
|---|---|---|---|---|---|---|
| WM1 | ND | ND | ND | ND | ND | ND |
| WM2 | 32.4% | 6.6% | 5.8% | 1.0% | ND | ND |
| WM3 | 0.3% | 34.4% | 6.5% | 0.3% | ND | 0.2% |
| WM4 | ND | ND | ND | ND | ND | ND |
| WM5 | ND | ND | ND | ND | ND | ND |
| WM6 | ND | ND | 10.3% | ND | 11.9% | ND |
| WM7 | ND | ND | 1.5% | ND | ND | ND |
| WM8 | ND | ND | 0.7% | ND | ND | ND |
Results are presented for 6 patients who progressed on ibrutinib (WM1-WM6), and for 2 patients (WM7 and WM8) who were positive for a BTKCys481 variant from screening 38 patients on ibrutinib without clinical progression at time of sequencing.
ND, not detected.