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. 2023 Jan 31;7(12):2794–2806. doi: 10.1182/bloodadvances.2022008821

Table 3.

BTK and PLCG2 nonhotspot mutations in relapsed and responsive cohorts, as assessed by targeted NGS analysis

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