Fig. 2

Characterisation and molecular evolution of CYSLTR2 mutant uveal melanomas. a Mutant allele fractions for CYSLTR2 p.L129Q in PUM-1A and PUM-2A are both significantly higher than 50% and therefore in conflict with heterozygosity of this mutation. b Absolute quantification of genetic alterations in PUM-1A. CYSLTR2 mutation, gain of chromosome 8q and losses of chromosome 1p and 16q present being clonal in a fraction of ~ 74% of total cells in the tumour mass. The losses of chromosome 13q and chromosome 3p are subclonal, as both are detected in 67% of the cells. c CYSLTR2 genetic evolution in PUM-1A/B, as inferred from absolute quantification of genetic aberrations. Starting at the germline situation (healthy cells), firstly the mutation has been acquired (clone I), after which the wild-type allele has been eliminated (clone II). d Clonal composition of PUM-1A/B shows the presence of both clones in both samples, but a lower fraction healthy cells is observed in the microdissected sample (PUM-1B: 1%) versus the macrodissected sample (PUM-1A: 26%). e CYSLTR2 genetic evolution in PUM-2A/B, as inferred from absolute quantification of genetic aberrations. Starting from the germline situation (healthy cells), firstly the mutation has been acquired (clone I), after which the mutant allele has been gained (clone II). f Clonal composition of PUM-2A/B shows the presence of both clones in both samples at varying levels