Figure 2: Patterns of rearrangement in osteosarcoma.

In a the rare case of a tumour is shown in which rearrangements are confined to a single chromosome as a consequence of chromothripsis. This causes multiple driver events in this tumour, that is, loss of heterozygosity (LOH) of TP53 and MAP2K4 and disruption of NF1 by insertion of breakpoints into the gene footprint. (b–d) Examples of chromothripsis-amplification. The x axis shows genomic position in mega bases and the y axis shows absolute copy number. Each dot in the plot represents the copy number of a particular genomic position. Lines and arcs: breakpoint with rearrangements coded by colour. Brown: tandem duplication; blue: deletion; green and turquoise: inversion; grey with arrowheads: interchromosomal rearrangement.