Table 2.
Mutations detected in the histiocytic neoplasms and additional myeloid leukaemias of the three patients presented in this study.
| Case | Material | Diagnosis | Day | Method | Mutation(s) | VAF |
|---|---|---|---|---|---|---|
| 1 | First bone marrow biopsy | HS | 0 | NGS CHPv2.0 | KRAS p.A59E | 30% |
| 1 | First bone marrow biopsy | HS | 0 | NGS PATHv2D |
KRAS p.A59E MAP2K1 p.F53L RAF1 p.S257L |
34% 3.8% 7.9% |
| 1 | Second bone marrow biopsy | CMML/HS | 38 | NGS CHPv2.0 | KRAS p.A59E | 40% |
| 1 | Second bone marrow biopsy | CMML/HS | 38 | NGS PATHv2D |
KRAS p.A59E MAP2K1 p.F53L RAF1 p.S257L |
42% 2% 0.7% |
| 2 | Skin biopsy | ICH | 0 | NGS OPv3.0 | NRAS p.G12V | 20% |
| 2 | Bone marrow biopsy | CMML | 21 | NGS OPv3.0 | NRAS p.G12V | 42% |
| 3 | First bone marrow biopsy | MM/ECD | 0 |
1. NGS DPv5.0 2. NGS DPv5.0 3. Sanger sequencing |
NRAS p.Q61R |
1. 69%* 2. 18%* 3. N/A |
| 3 | Left tibia biopsy | ECD | 175 | NGS DPv5.1 | NRAS p.Q61R | 37% |
| 3 | Skin biopsy | ECD | 479 | NGS DPv5.1 | NRAS p.Q61R | 37% |
| 3 | Bone marrow aspirate | AML/ECD | 836 | NGS Illumina TruSight Myeloid | NRAS p.Q61R | 44% |
Abbreviation: N/A, not available.
*
VAF is unreliable due to poor DNA quality resulting in low number of reads.