Figure 3.

Cryptic germline TP53 alterations in hypodiploid ALL. Germline DNA is shown in green and tumor DNA is shown in brown as a wiggle plot of whole-genome sequencing (WGS) read depth spanning the TP53 gene shown on the University of California at Santa Cruz (UCSC) genome browser. One low-hypodiploid tumor (HYPO052) that was originally reported as an aberrantly spliced isoform was later found to contain an 8.7-kb focal deletion of exon 2–exon 5 on deeper sequencing analysis (Holmfeldt et al. 2013). The original estimate of ∼90% of low-hypodiploid cases possessing TP53 alteration is likely an underestimation, with a higher number of cases having germline mutations (data from Zhang et al. 2015).