Table 1. Tested patients with suspected clinical progression on ibrutinib therapy.
| BTK | PLCγ2 | BTK HS | PLCγ2 HS | % CLL/ WBC | |
|---|---|---|---|---|---|
| Pat # 1 | WT | WT | WT | R665W (c>t) (cells);P664S (c>t) (plasma) | 7.0 |
| Pat # 2 | WT | WT | WT | R665W (c>t) | 87.8 |
| Pat # 3 | C481S (g>c) | WT | C481S (g>c) | R665W (c>t),S707Y (c>a),L845F (a>t, a>c) | 61.6 |
| Pat # 4 | C481R (t>c) | R665W (c>t),L845F (a>t) | C481S (g>c, t>a),C481R (t>c) | R665W (c>t),L845F (a>t) | 55.0 |
| Pat # 5 | C481S (g>c) | WT | C481S (g>c) | Ser707TyrdelAlaTyr (6NT deletion) | 48.9 |
| Pat # 6 | WT | WT | C481S (g>c) | R665W (c>t) | 21.5 |
| Pat # 7 | C481S (g>c) | WT | C481S (g>c) | Ser707TyrdelAlaTyr(6NT deletion) (serum);S707Y (c>a) (plasma) | 75.0 |
| Pat # 8 | C481S (g>c) | WT | C481S (g>c) | WT | not performed |
| Pat # 9 | WT | WT | WT | WT | not performed |
| Pat # 10 | WT | WT | WT | WT | not performed |
| Pat # 11 | WT | WT | WT | WT | not performed |
| Pat # 12 | WT | WT | WT | WT | not performed |
| Pat # 13 | WT | WT | WT | WT | not performed |
| Pat # 14 | WT | WT | C481S (g>c) | P664L (c>t) | not performed |
| Pat # 15 | WT | WT | C481S (g>c) | WT | not performed |
| Pat # 16 | C481S (g>c) | WT | C481S (g>c) | WT | 92.9 |
Mutational status of BTK and PLCγ2 was determined by conventional and high-sensitivity (HS) Sanger sequencing. “% CLL/WBC” indicates the percentage of CLL cells of white cell count in the tested samples as determined by flow cytometry. Abbreviation: Pat = Patient, HS = high-sensitivity, WBC = white blood cells, WT = wild-type/unmutated.