Fig. 5

The landscape of canonical and complex structure variation in NKTCL. A Distribution of canonical structural variants (SVs) across the 71 NKTCL patients with WGS data. The canonical SV types employed here include insertion, deletion, duplication, inversion, and translocation. B The comparison of per-sample canonical SV numbers between the primary and relapsed/refractory patient groups. Brunner–Munzel test was applied for assessing the statistical significance. C The comparison of per-sample canonical SV numbers between the wildtype and mutated TP53 patient groups. Brunner–Munzel test was applied for assessing the statistical significance. D An exemplary chromothripsis event detected in one NKTCL patient. The chromosome ideograms of the affected regions (on chromosomes 1 and 2) are shown at the top. Different subtypes of SVs are represented by connected lines illustrated in the middle: black, head-to-head inversion (+ / +); green, tail-to-tail inversion (− / −); orange, deletion-like (+ / −); blue, duplication-like (− / +). The copy number profile of the corresponding regions is depicted at the bottom, where the horizontal and vertical axes represent the chromosome coordinates and copy number respectively, while each CN segment is represented by a black bar. Detail information for the depicted region is presented as a table at the bottom. E Kaplan–Meier curves of progression-free survival (PFS) by the attribute of chromothripsis in the NKTCL patients with WGS data. F Kaplan–Meier curves of overall survival (OS) by the attribute of chromothripsis in the NKTCL patients with WGS data. G Detailed characterization of 12 samples identified with focal amplifications, for which focal amplicons were further classified into linear, complex, cyclic (eccDNA), and breakage fusion bridge (BFB). H The genome browser track derived from one patient (denoted as NKT_44) depicted by AmpliconArchitect. The connected lines indicate potential structure combinations in eccDNA amplicons. The horizontal axis represents chromosome coordinates. The left vertical axis represents the depth of coverage, while the right vertical axis denotes the copy number