Characteristics of patients withCEBPA DM that have remission material available
| Patient ID . | RNA frequency at diagnosis, %* . | Skewing† . | RNA frequency at remission, %* . | GATA2 mutations‡ . | GATA2 allele expressed§ . | CEBPA mutations|| . | CEBPA mutation VAF . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| n . | Type (VAF) . | Diagnosis . | Remission . | ||||||||
| Mut1 . | Mut2 . | Mut1 . | Mut2 . | ||||||||
| 13975 | 41.21 | Not skewed | 44.48 | 0 | — | — | N/C | 0.396 | 0.459 | 0.000 | 0.000 |
| 14006 | 17.81 | Skewed | 47.66 | 0 | — | — | N/N | 0.882 | HMZ | 0.000 | HMZ |
| 14347 | 16.96 | Skewed | 46.79 | 1 | ZF1 (0.49) | Mut (0.82) | N/C | 0.457 | 0.420 | 0.000 | 0.183 |
| 17658 | 25.65 | Skewed | 49.15 | 0 | — | — | N/N | 0.457 | 0.460 | 0.001 | 0.000 |
| 18522 | 23.43 | Skewed | 46.39 | 0 | — | — | C/C | 0.781 | HMZ | 0.001 | HMZ |
| 24783 | 37.22 | Skewed | 47.73 | 0 | — | — | N/C | 0.446 | 0.436 | 0.000 | 0.000 |
| 24819 | 28.66 | Skewed | 42.23 | 1 | ZF1 (0.06) | Mut (0.10) | N/C | 0.401 | 0.316 | 0.000 | 0.000 |
| 27899 | 24.73 | Skewed | 42.33 | 0 | — | — | N/C | 0.470 | 0.460 | 0.000 | 0.000 |
| 27977 | 0.01 | Monoallelic | 0.56 | 0 | — | — | N/C | 0.503 | 0.434 | 0.000 | 0.501 |
| 36832 | 41.03 | Not skewed | 40.58 | 0 | — | — | N/C | 0.438 | 0.389 | 0.000 | 0.000 |
| 40126 | 12.85 | Skewed | 47.57 | 2 | ZF1 (0.12), ZF1 (0.07) | Mut (0.16), mut (0.11) | N/C | 0.469 | 0.469 | 0.000 | 0.000 |
| 47293 | 14.71 | Skewed | 41.46 | 0 | — | — | N/C | 0.435 | 0.459 | 0.000 | 0.001 |
| Patient ID . | RNA frequency at diagnosis, %* . | Skewing† . | RNA frequency at remission, %* . | GATA2 mutations‡ . | GATA2 allele expressed§ . | CEBPA mutations|| . | CEBPA mutation VAF . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| n . | Type (VAF) . | Diagnosis . | Remission . | ||||||||
| Mut1 . | Mut2 . | Mut1 . | Mut2 . | ||||||||
| 13975 | 41.21 | Not skewed | 44.48 | 0 | — | — | N/C | 0.396 | 0.459 | 0.000 | 0.000 |
| 14006 | 17.81 | Skewed | 47.66 | 0 | — | — | N/N | 0.882 | HMZ | 0.000 | HMZ |
| 14347 | 16.96 | Skewed | 46.79 | 1 | ZF1 (0.49) | Mut (0.82) | N/C | 0.457 | 0.420 | 0.000 | 0.183 |
| 17658 | 25.65 | Skewed | 49.15 | 0 | — | — | N/N | 0.457 | 0.460 | 0.001 | 0.000 |
| 18522 | 23.43 | Skewed | 46.39 | 0 | — | — | C/C | 0.781 | HMZ | 0.001 | HMZ |
| 24783 | 37.22 | Skewed | 47.73 | 0 | — | — | N/C | 0.446 | 0.436 | 0.000 | 0.000 |
| 24819 | 28.66 | Skewed | 42.23 | 1 | ZF1 (0.06) | Mut (0.10) | N/C | 0.401 | 0.316 | 0.000 | 0.000 |
| 27899 | 24.73 | Skewed | 42.33 | 0 | — | — | N/C | 0.470 | 0.460 | 0.000 | 0.000 |
| 27977 | 0.01 | Monoallelic | 0.56 | 0 | — | — | N/C | 0.503 | 0.434 | 0.000 | 0.501 |
| 36832 | 41.03 | Not skewed | 40.58 | 0 | — | — | N/C | 0.438 | 0.389 | 0.000 | 0.000 |
| 40126 | 12.85 | Skewed | 47.57 | 2 | ZF1 (0.12), ZF1 (0.07) | Mut (0.16), mut (0.11) | N/C | 0.469 | 0.469 | 0.000 | 0.000 |
| 47293 | 14.71 | Skewed | 41.46 | 0 | — | — | N/C | 0.435 | 0.459 | 0.000 | 0.001 |
HMZ, homozygous; mut, mutated allele.
Indicates the proportion of reads from the minor allele for each single-nucleotide polymorphism considered, determined at diagnosis or remission.
Categorized as monoallelic for RNA frequency ≤0.10 or skewed for RNA frequency ≤0.35.
Reports the VAF of the mutation at the DNA level.
Includes the VAF measured in the RNA.
VAF of the 2 CEBPA mutations is indicated in N- to C-terminal order, at diagnosis and remission.