Figure 2. Genomic profiles of the primary and relapse tumors. Copy-number profiles, ploidy, and tumor cell ratio from whole genome sequencing of tumor material generated by ASCAT [43]. For each figure, the upper panel shows the allele-specific copy number across the genome (copy number on y axis vs genomic location on the x axis). The allele with the lowest copy number is shown in green, while that with highest copy number, in red. For illustrative purposes, both lines are slightly shifted (red, down; green, up) such that they do not overlap. Only germline heterozygous probes are shown. In the middle and lower panels, the normalized log transform of read depth (LogR) and B-allele frequencies (BAF) values overlaid with segmented LogR and BAF across the genome are shown, respectively, representing the relative presence of each allele. (A) Near triploid desmoplastic small round-cell tumor showing multiple numerical and segmental chromosomal aberrations, including 1q gain (5 copies) and loss of heterozygosity in chromosomes 6 and 16. (B) The relapsed scalp tumor was also near triploid. Multiple aberrations were shared with the primary tumor, while new rearrangements emerged in specific chromosomal regions, such as 1p loss, 4q gain, loss of heterozygosity in chromosomes 11 and 13, and 15q rearrangements, which may suggest the involvement of genomic instability in the evolution of the tumor.