A likely chromothripsis event resulting in loss of the CDKN2A/B locus. Shown are regions of somatic copy number loss (blue) detected by HMMCopy analysis of a single case. Gray arcs represent rearrangement breakpoints and connections, as determined by contigs resulting from whole genome assembly of that case. (A) The rearranged region includes a series of deleted segments and encompasses many genes. The coordinated loss of genetic material and focused rejoining of fragments in these discrete regions is indicative of a single mutational event followed by DNA repair in a single cell cycle and is consistent with the chromothripsis model.32 (B) An expanded view of the boxed region from (A) is shown. One of the deleted segments encompasses both CDKN2A and CDKN2B, known to be targets of focal deletion in DLBCL6 and also found to be commonly deleted in this cohort.
