Fig. 1: Distribution of hallmark UM mutations in primary tumors and metastases.

a Proportional Venn diagram of primary UMs with GNAQ (purple), GNA11 (green), BAP1 (red), SF3B1 (yellow), and EIF1AX (blue) mutations. Statistical significance of mutual exclusivity between gene pairs was determined by two-sided Fisher’s exact tests. b Proportional Venn diagram of primary UMs with GNAQ (purple), GNA11 (green), BAP1 (red), SF3B1 (yellow), and EIF1AX (blue) mutations. Proportion of c BAP1 mutations (mutant shown in blue and wildtype shown in orange), d chromosome 3 copy number (monosomy 3 or loss of heterozygosity (LOH) shown in blue and disomy 3 shown in orange), e BAP1 status (deficient (mutant or genomic copy loss) shown in blue and intact shown in orange), f EIF1AX and/or SF3B1 mutations (mutant shown in blue and wildtype shown in orange) in hepatic and extrahepatic metastases. Statistical significance was determined using a two-sided Chi-square test. Kaplan–Meier curve showing the probability of g extrahepatic and h hepatic metastasis in patients with primary UM stratified by their bulk gene expression profile (GEP1 shown in green and GEP2 shown in red). Statistical significance was determined using the Log-rank test. Source: a, b Yale, Karlsson et al.¹⁰, Nguyen et al.¹¹, Ny et al.¹², Robertson et al.⁹, and Royer-Bertrand et al.¹³;b–f Yale, Karlsson et al.¹⁰, Nguyen et al.¹¹, Ny et al.¹², and Royer-Bertrand et al.¹³; g, h Yale.