Figure 1.
Figure 1. Landscape of TP53 mutations and clonal architecture of patients with pure erythroid leukemia. (A) Landscape of TP53 mutations identified in patients with PEL. Mutations highlighted in dark gray in the included table represent transitions, and those highlighted in light gray represent transversions. (B) Clonal architecture of patients with PEL. Y-axis represents variant allele frequency for identified mutations. Bone marrow erythroblasts include normoblasts, pronormoblasts, and undifferentiated leukemic erythroblasts present on bone marrow aspirates and are represented as a frequency of total bone marrow scaled to a range from 0 to 1 from original percentage. Chr17 abnormalities are expressed as a 0:1 ratio of metaphases harboring the alteration from the total analyzed metaphases. Patients 15, 16, 21, 24, and 25 carried 2 different TP53 mutations, and among these, the minor TP53 mutation seemed to be clonally related in 3 patients (15, 24, 25) and subclonally related in 2 patients (16 and 21). In patient 13, the TP53 mutation was observed with a variant allele frequency of 0.92 with no detectable chr17 abnormalities, suggesting loss of heterozygosity with uniparental disomy of chr17 harboring a somatic TP53 mutation.

Landscape of TP53 mutations and clonal architecture of patients with pure erythroid leukemia. (A) Landscape of TP53 mutations identified in patients with PEL. Mutations highlighted in dark gray in the included table represent transitions, and those highlighted in light gray represent transversions. (B) Clonal architecture of patients with PEL. Y-axis represents variant allele frequency for identified mutations. Bone marrow erythroblasts include normoblasts, pronormoblasts, and undifferentiated leukemic erythroblasts present on bone marrow aspirates and are represented as a frequency of total bone marrow scaled to a range from 0 to 1 from original percentage. Chr17 abnormalities are expressed as a 0:1 ratio of metaphases harboring the alteration from the total analyzed metaphases. Patients 15, 16, 21, 24, and 25 carried 2 different TP53 mutations, and among these, the minor TP53 mutation seemed to be clonally related in 3 patients (15, 24, 25) and subclonally related in 2 patients (16 and 21). In patient 13, the TP53 mutation was observed with a variant allele frequency of 0.92 with no detectable chr17 abnormalities, suggesting loss of heterozygosity with uniparental disomy of chr17 harboring a somatic TP53 mutation.

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