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. Author manuscript; available in PMC: 2021 Aug 25.
Published in final edited form as: N Engl J Med. 2020 Nov 5;383(19):1860–1865. doi: 10.1056/NEJMoa2000962

Figure 3. Independent Origin of Bilateral Tumors with Divergent Risk Profiles in Patient 2.

Figure 3

Coronal MRI shows a large left adrenal tumor extending into the right thorax (image at left) and a small right adrenal tumor (with arrows indicating tumors) in Patient 2 (case number, PD34954). Panel B shows the phylogenetic origin of the left and right tumors, with a de novo truncating variant in PHOX2B. Branches in black depict variants shared with blood. The numbers of substitutions are annotated above the branch, and indels are annotated below the branch. Panel C shows the variant allele frequencies of representative variants that are present in blood and that delineate both tumor lineages. A full heat map is provided in Figure S4 in Supplementary Appendix 1. Panel D shows a phased copy-number plot of the left and right tumors. Breakpoints of structural variants are connected by solid lines. Panel E shows the timing of the acquisition of copy-number gains from somatic mutations before and after duplication. Asterisks indicate that there was a lack of evidence that gains occurred at different time points (P>0.05 by the Poisson test).