Figure 4.

Evolution of WM in patient 2. This patient was diagnosed with WM in 2010 and transformed to DLBCL in 2015, with a symptomatic progression in 2013 before the transformation. We observed 35 mutations at diagnosis, 47 at relapse and 72 at transformation, including 29 alterations that were conserved at the times of the three events. The PPM1D, SBF2, TRAPPC9, TRPM7 and WT1 genes were mutated either at progression or transformation. By contrast, the two mutations found in TP53 were seen at relapse but were lost by the time of transformation. This implies that the transformed final clone did not evolve from the same subclone as was responsible for progression, but from a previous one that would not yet have acquired the TP53 mutations (among others).