FigureĀ 1.
TP53 mutation profiles in a cohort of patients with ALL. (A) Description of a cohort of 43 patients with ALL with known somatic TP53 mutations at the time of diagnosis or relapse (top left), regarded as the screening timepoint. Distribution of TP53 mutant-allele burden (top middle) and cytogenetic subgroups (top right). Forty-two distinct TP53 mutations are shown on lollipop chart and color-coded as nonsense, missense, frameshift and splice site mutations (bottom). Some TP53 mutations occurred more than once, in total 48 TP53 mutations were detected. TP53 mutation load compared with IG/TR MRD in diagnostic and follow-up samples. (B) Patients are stratified based on the best molecular response (MRD-negative, MRD <Q, or MRD-positive) achieved before allogeneic stem cell transplantation. The proportion of patients with persisting TP53 mutations (red bars) in the respective follow-up samples is shown (left). IG/TR MRD (x-axis) is compared with the mutated TP53 variant allele frequency (VAF, y-axis) in all diagnostic and follow-up samples (94 samples). The dotted lines represent the sensitivity threshold for TP53 mutations (right). TP53mt, mutated TP53; TP53wt, wild-type TP53.

TP53 mutation profiles in a cohort of patients with ALL. (A) Description of a cohort of 43 patients with ALL with known somatic TP53 mutations at the time of diagnosis or relapse (top left), regarded as the screening timepoint. Distribution of TP53 mutant-allele burden (top middle) and cytogenetic subgroups (top right). Forty-two distinct TP53 mutations are shown on lollipop chart and color-coded as nonsense, missense, frameshift and splice site mutations (bottom). Some TP53 mutations occurred more than once, in total 48 TP53 mutations were detected. TP53 mutation load compared with IG/TR MRD in diagnostic and follow-up samples. (B) Patients are stratified based on the best molecular response (MRD-negative, MRD <Q, or MRD-positive) achieved before allogeneic stem cell transplantation. The proportion of patients with persisting TP53 mutations (red bars) in the respective follow-up samples is shown (left). IG/TR MRD (x-axis) is compared with the mutated TP53 variant allele frequency (VAF, y-axis) in all diagnostic and follow-up samples (94 samples). The dotted lines represent the sensitivity threshold for TP53 mutations (right). TP53mt, mutated TP53; TP53wt, wild-type TP53.

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