ALL has a similar mutational profile in the bone marrow and blood of the same patient. (A) Scatter plot with the percentage of mutated cells in PB vs BM per patient at diagnosis (XF91, XF97, XF100, and XG121) or at relapse (XD83). Each dot is a variant and the dashed diagonal is the perfect correlation (r_p = Pearson correlation value). Included are all the filtered and curated variants per patient (supplemental Figure 1; supplemental Table 6). Of note, there are no unique variants in BM and PB, and the shift toward BM for some patients is in line with the clinically reported higher percentage of lymphoblasts in BM. (B) Clonal architecture analysis for the indicated patients and variants. Cells with complete genotype from BM and PB samples at diagnosis (XF91 = 3063 cells, XF97 = 5847 cells, and XF100 = 4665 cells) or relapse (XD83 = 3968 cells) are included. Horizontal bars on the top depict the clone (lower bar) or the sample origin (higher bar). For visual purposes, cells in the sample origin bar are sorted per clone according to their origin (PB in red and BM in blue). Remarkably, all clones have cells from both BM and PB. Heatmap shows the cell genotype without zygosity (wild type = gray, mutated = dark blue) for each selected somatic variant. Small genotype combinations (<5% of the cells) that are likely to represent false-positive clones as a result of ADO were not computed as a separate clone. For instance, cells with a wild-type genotype for 1 of the 6 mutated variants in the C1 clone of XF97 patient are caused by ADO (supplemental Figure 3 with zygosity and read depth information).