Mutations detected by bulk DNA next-generation sequencing in a patient with advSM
Variant . | VAF, % . | ||
---|---|---|---|
PB1 . | BM . | PB2 . | |
RUNX1 R204Q | 34.82 | 46.15 | 20.94 |
SRSF2 P95H | 34.23 | 43.19 | 20.06 |
ASXL1 R693* | 35.71 | 45.01 | 20.93 |
KIT D816V | 30.25 | 0.00 | 12.27 |
EZH2 V696E | 33.08 | 0.00 | 13.88 |
TET2 P851Lfs*22 | 0.00 | 44.03 | 6.55 |
NRAS G12D | 0.00 | 40.87 | 0.00 |
RUNX1 R162S | 0.00 | 0.00 | 9.97 |
Variant . | VAF, % . | ||
---|---|---|---|
PB1 . | BM . | PB2 . | |
RUNX1 R204Q | 34.82 | 46.15 | 20.94 |
SRSF2 P95H | 34.23 | 43.19 | 20.06 |
ASXL1 R693* | 35.71 | 45.01 | 20.93 |
KIT D816V | 30.25 | 0.00 | 12.27 |
EZH2 V696E | 33.08 | 0.00 | 13.88 |
TET2 P851Lfs*22 | 0.00 | 44.03 | 6.55 |
NRAS G12D | 0.00 | 40.87 | 0.00 |
RUNX1 R162S | 0.00 | 0.00 | 9.97 |
PB1, PBMC sample 7 months before treatment; BM, bulk BM sample 3 months after midostaurin treatment; PB2, PBMC sample at relapse after combination treatment with midostaurin and azacitidine for 8 months.