Fig. 1

Pre-B-ALL expressing EP300-ZNF384 MNC have reduced CD10 expression and a distinct gene signature, and patients have improved survival. a Sequence of the fusion breakpoint between EP300 (at 22p13.2) and ZNF384 (at 12p13). b Surface expression of CD10, CD19 and CD34 on AYA/adult MNC compared between pre-B-ALL containing EP300-ZNF384 fusion (open circles) to those without detectable EP300-ZNF384 fusions, pre-B-ALL ‘others’ (closed circles) *p = 0.046. Mean ± SEM is shown and analysed by unpaired t-test with two-tail test. c Kaplan–Meier analysis of percent overall survival from diagnosis for patients classified into different subtypes; EP300-ZNF384, n = 8 (red), B-ALL 'other', n = 61 (blue), BCR-ABL1, n = 27 (black) and Ph-like, n = 24 (purple). d Unsupervised clustering using multidimensional scaling (MDS) plots of log-CPM values based on dimensions 1 and 2 reveals differences in gene expression from 8 AYA/adult cases containing the EP300-ZNF384 fusion (red) and 8 AYA/adult pre-B-ALL ‘other’ cases without detectable fusions (black) matched for age, initial white  cell count (WCC) and sex (outlined in Supplementary Table 2). The distances that display on the plot correspond to the average (root-mean-square) fold-change in log 2 scale for 500 genes with the most divergent between each pair of samples by default. An interactive MDS plot of this dataset can be found at the Supplementary Figure 1. e Differential gene expression in AYA/adult pre-B-ALL containing EP300-ZNF384 fusion (red, n = 8) compared to those without detectable gene fusions (black, n = 8). Heatmap showing the top 100 genes with significant expression differences based on FDR p < 0.05. An interactive gene expression plot of this data set is available at https://github.com/chungkok/EP300_ZNF384. f Gene set enrichment profiling of transcriptomic sequencing data of EP300-ZNF384 (n = 8) versus pre-B-ALL ‘other’ (n = 8) FDR q < 0.05. Statistical analysis was performed in GraphPad Prism (GraphPad Software Inc., La Jolla, CA, USA)