Mutations detected by single-cell DNA sequencing in a patient with advSM
| . | Cell no. (subclone %) . | ||
|---|---|---|---|
| Subclone variants . | PB1 . | BM (total N = 239)* . | PB2 (total N = 4986)* . |
| WT | NA | 2 (0.78) | 3626 (72.72) |
| RUNX1 R204Q | NA | 1 (0.39) | 63 (1.26) |
| RUNX1 R204Q/TET2 P851Lfs*22 | NA | 5 (1.95) | 513 (10.29) |
| RUNX1 R204Q/TET2 P851Lfs*22/NRAS G12D | NA | 231 (96.88) | 4 (0.08) |
| RUNX1 R204Q/KIT D816V | NA | 0 (0.00) | 33 (0.66) |
| RUNX1 R204Q/KIT D816V/EZH2 V696E | NA | 0 (0.00) | 181 (3.63) |
| RUNX1 R204Q/KIT D816V/EZH2 V696E/RUNX1 R162S | NA | 0 (0.00) | 566 (11.35) |
| . | Cell no. (subclone %) . | ||
|---|---|---|---|
| Subclone variants . | PB1 . | BM (total N = 239)* . | PB2 (total N = 4986)* . |
| WT | NA | 2 (0.78) | 3626 (72.72) |
| RUNX1 R204Q | NA | 1 (0.39) | 63 (1.26) |
| RUNX1 R204Q/TET2 P851Lfs*22 | NA | 5 (1.95) | 513 (10.29) |
| RUNX1 R204Q/TET2 P851Lfs*22/NRAS G12D | NA | 231 (96.88) | 4 (0.08) |
| RUNX1 R204Q/KIT D816V | NA | 0 (0.00) | 33 (0.66) |
| RUNX1 R204Q/KIT D816V/EZH2 V696E | NA | 0 (0.00) | 181 (3.63) |
| RUNX1 R204Q/KIT D816V/EZH2 V696E/RUNX1 R162S | NA | 0 (0.00) | 566 (11.35) |
NA, not available.
*The number of cells with allele dropout or missing genotype in BM or PB2 was 331 and 1000, respectively.