American Society of Hematology

Figure 3.

$T-ALL mutational landscape based on single-cell DNA sequencing of 8 pediatric patients. (A) Heatmap with the oncoprint of patient samples at diagnosis (and relapse for XD83 patient) analyzed by single-cell DNA sequencing. Each column represents a patient, and each row represents a gene with at least 1 detected protein-coding somatic variant (89 different variants across 37 genes). The total number of mutations detected per gene is shown in the left column with a blue color gradient and the number of mutations detected per patient is shown in the upper row with a green color gradient. The heatmap red color gradient indicates the number of variants per patient and gene. (B) Pie chart with the distribution of the 89 different variants according to the protein translation implication (missense, synonymous, nonsense, frameshift, in frame, or splicing). Green denotes SNV variants, whereas blue denotes small indel variants. Splicing variants (pink) can be either SNV or indels. (C) Percentage of mutated cells per variant (dot) and patient (row) at diagnosis (and relapse for XD83 patient). The number of mutations per patient corresponds to the upper row in panel A. The variant frequency distribution for a given patient is represented with a violin plot. All variants reported are mutated in at least 0.5% of the cells from a given sample. (D) Lolli plot showing the somatic mutation spectra throughout the protein sequence of NOTCH1. The scale bar represents the length (amino acids) of the protein sequence, and the corresponding exons are indicated with vertical lines. Each lolli plot represents a NOTCH1 variant identified in this study (patient origin is indicated by color and results for the diagnostic (T0), relapse 1 (R1), and relapse 2 (R2) samples of XD83 are reported separately. The corresponding variant name is shown on the top of the lolli plot specifying the coding impact. Recurrent mutations are indicated with multiple pie charts at the same position (total count 2-5). The colored part of the pie chart corresponds to the fraction of mutated cells for that variant.$

T-ALL mutational landscape based on single-cell DNA sequencing of 8 pediatric patients. (A) Heatmap with the oncoprint of patient samples at diagnosis (and relapse for XD83 patient) analyzed by single-cell DNA sequencing. Each column represents a patient, and each row represents a gene with at least 1 detected protein-coding somatic variant (89 different variants across 37 genes). The total number of mutations detected per gene is shown in the left column with a blue color gradient and the number of mutations detected per patient is shown in the upper row with a green color gradient. The heatmap red color gradient indicates the number of variants per patient and gene. (B) Pie chart with the distribution of the 89 different variants according to the protein translation implication (missense, synonymous, nonsense, frameshift, in frame, or splicing). Green denotes SNV variants, whereas blue denotes small indel variants. Splicing variants (pink) can be either SNV or indels. (C) Percentage of mutated cells per variant (dot) and patient (row) at diagnosis (and relapse for XD83 patient). The number of mutations per patient corresponds to the upper row in panel A. The variant frequency distribution for a given patient is represented with a violin plot. All variants reported are mutated in at least 0.5% of the cells from a given sample. (D) Lolli plot showing the somatic mutation spectra throughout the protein sequence of NOTCH1. The scale bar represents the length (amino acids) of the protein sequence, and the corresponding exons are indicated with vertical lines. Each lolli plot represents a NOTCH1 variant identified in this study (patient origin is indicated by color and results for the diagnostic (T0), relapse 1 (R1), and relapse 2 (R2) samples of XD83 are reported separately. The corresponding variant name is shown on the top of the lolli plot specifying the coding impact. Recurrent mutations are indicated with multiple pie charts at the same position (total count 2-5). The colored part of the pie chart corresponds to the fraction of mutated cells for that variant.

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