Figure 1

SETD2 deletions in our discovery, extension and ultra-high-risk cohorts. (a) SNP6.0 data for the del(3p) cases. Genomic location is indicated by the ladder to the left. Each column represents one patient. Loss, gain and normal copy number are shown as blue, red and white, respectively. The black box indicates the MDR, and is displayed in greater detail for our discovery and extension cohorts. The genes in the MDR with their transcriptional direction are displayed in the middle, with the MDR from the discovery and extension cohorts shown by the red and purple bars, respectively. (b) Matrix displaying the biomarkers and genomic features associated with del(3p) cases with the discovery, extension and ultra-high-risk cases shown in red, purple and yellow, respectively. (c) Real-time PCR expression for the five genes localized in the discovery MDR in cases with or without del(3p). All the samples were negative for KIF9. 18 s was employed as housekeeping gene. Expression in normal B-cells was used as a normalization sample. Mean±s.d. is represented. (d) Scatterplots displaying the number of CNA observed in subgroups of our cohort (excluding ultra-high-risk cases). Cases were assigned to a subgroup using a hierarchical model; presence of del(17p) and/or TP53 mutation, then del(11q) and/or ATM mutation, then del(3p) cases with and without TP53 abnormalities and then wild-type (WT) cases containing no del(17p), del(11q), del(3p) or mutations in ATM and TP53. Mean±s.d. is represented.