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