Fig. 5: Chromosomal rearrangements delineate distinct profiles and their association with siNETs survival.

siNETs can be defined by specific chromosomic rearrangements. a Frequency plots of DNA gains (yellow) and losses (blue) in the discovery cohort. RB1 (Retinoblastoma 1). b Unsupervised hierarchical clustering of copy number alterations in the ileum discovery cohort. A 20260 genes x 99 samples matrix encoded with −1 (loss), 0 (no alteration), +1 (gain) was used (see Methods). Tumor purity, ploidy and fraction of genome altered (FGA) were estimated from ASCAT analysis. Recapitulative ssGSEA score of each gene cluster (epithelial, vesicular, mesenchymal and immune) is indicated as bottom annotation. CNA (Copy Number Alterations). Clustering method: Ward’s; distance: binary. c, d Kaplan-Meier, log-rank test and Cox proportional hazards regression model methods were used to study overall (OS) and progression-free (PFS) survival for chr18.del and chr4.10.14.gains statuses. chr4.10.14.gains was set to YES if at least one of chromosomes 4, 10 or 14 was gained, NO otherwise. The shaded areas represent 95% confidence intervals around the curves; p-values are indicated below the graphs.