Table 1.

Mutations detected by bulk DNA next-generation sequencing in a patient with advSM

VariantVAF, %
PB1BMPB2
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 
VariantVAF, %
PB1BMPB2
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.

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