Table 1 Genomic profiling in systemic-mastocytosis with acute myeloid leukemia.

From: Systemic mastocytosis with acute myeloid leukemia occurs from mutually exclusive clones expressing KITD816V and FLT3-ITD

Time point Diagnosis Post-induction
Cellular fraction Bulk BM Myeloblasts Mast Cells T cells Bulk BM
Deleterious variants identified by NGS Variant allele frequencies (VAF)
FLT3: p.Leu610_Glu611ins13 (FLT3-ITD) 23% 32% N/D N/D N/D
KIT: p.Asp817Val (KITD816V) 3% N/D 10% N/D 7%
RUNX1: p.Arg346Profs*254 35% 50% 35% N/D 17%
SRSF2: p.Pro95Arg 44% 50% 50% N/D 28%
BCORL1: p.Thr477Asnfs*63 76% 95% 62% N/D 23%
TET2: p.Tyr1255* N/D N/D N/D N/D 25%
  1. BM bone marrow, N/D not detected by next-generation sequencing (NGS).