Fig. 1. Somatic genomic alterations identified in SS patients.
a) The upper panel shows somatic mutation rates estimated by WES. The middle panel shows somatic mutations by patient (columns) and by gene (rows) including point mutations, somatic copy number alterations, and recurrent fusion transcripts. The top rows are patient IDs, followed by clinical and histopathological data. Race: W, White; AA, African American; H, Hispanic; AI, American Indian. SS origin: Pre-MF, pre-existing MF. LCT, large cell transformation. LOH, loss of heterozygosity. The number of months lived after disease diagnosis to last clinical visit or death was indicated together with the vital status. Annotation of RNA-seq expression was added for all missense and splicing mutations. A star indicates that the mutant allele was observed in the corresponding transcripts from RNA-seq data. Only genes that met one of the following criteria were included in the table: significantly mutated genes (MutSigCV, false discovery rate <0.1; BCMsig, total points ≥9); significant focal copy number alterations; with in-frame fusions in ≥2 patients; cancer related or biologically important (overlap with Cancer Gene Census or MSigDB database, see URLs) and with 2 or more nonsense, frame-shift, or expressed missense mutations, and were replicated in the extension cohort. Bottom panel: the mutational spectral. DNM, dinucleotide mutations; Indel, small insertions and deletions. §RNA-seq was not performed; ¶SNP array was not performed, due to lack of materials. b) Prevalence of UVB signatures in SS and other cancer types.