Table 3.
Patient ID | Cohort | Time point | Gene | coding DNA description | protein description | protein domain | NGS VAF (%) | References | Other BTK hotspot mutations | Other PLCG2 hotspot mutations |
---|---|---|---|---|---|---|---|---|---|---|
18 | Relapsed | relapse | BTK | c.136C>T | p.R46C | PH | 2.6 | none | yes | no |
26 | Relapsed | relapse | BTK | c.946A>G | p.T316A | SH2 | 3.0 | Sharma et al 2016; Kadri et al 2017; Jones et al 2017 | no | yes |
c.1003G>C | p.V335L | SH2 | 3.6 | none | ||||||
34 | Responsive | ≥1 y | BTK | c.1283C>A | p.A428D | TK | 6.0 | Wang et al 2022 | yes | yes |
7-PBMC | Relapsed | relapse | PLCG2 | c.601C>G | p.Q201E | EF | 2.7 | none | yes | no |
1 | Relapsed | relapse | PLCG2 | c.683T>A | p.F228Y | EF | 1.7 | none | yes | yes |
6 | Relapsed | relapse | PLCG2 | c.2543T>G | p.L848R | PH | 9.3 | Landau et al 2017 | yes | yes |
60 | Responsive | ≥1 y | PLCG2 | c.846G>C | p.E282D | EF | 3.8 | none | no | no |
83 | Responsive | ≥1 y | PLCG2 | c.3076A>T | p.A1026T | Y | 3.2 | none | no | no |