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. 2021 Apr 8;138(2):160–177. doi: 10.1182/blood.2020009244

Table 4.

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

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.