Genetic rearrangements associated with new BCP-ALL subtypes. (A) Schematic overview of the DUX4 protein with the position of the C-terminal truncations for 28 DUX4-rearranged BCP-ALL cases indicated by black circles. Data were adapted from Lilljebjörn et al.23 (B) Two examples of aberrations associated with ETV6-RUNX1–like ALL are depicted: cooccurring intrachromosomal deletions of 12p and 7p resulting in deletion of ETV6 and IKZF1. Besides deletions, the near ubiquitous ETV6 and IKZF1 alterations in this subtype can occur as small mutations or gene fusions with various partners. (C) Wild-type ZNF384 protein structure. (D) Schematic overview of reported ZNF384 fusion proteins.36-39 Alternate breakpoints have been reported in addition to those illustrated here for several of the fusions. A SMARCA2-ZNF384 fusion has also been reported,42 but is not represented because no breakpoint information was provided. (E) Wild-type MEF2D protein structure. (F) Schematic overview of MEF2D fusion proteins detected in MEF2D-rearranged BCP-ALL cases.23,42 MEF2D-CSF1R is not included because it reportedly does not share the MEF2D-rearranged gene expression profile.42
