Figure 1: Genomic aberrations identified in 38 spitzoid neoplasms by targeted sequencing.

(a) The columns denote the samples, the rows denote genes, brown squares represent gene fusions, red squares symbolize point mutations and indels, green squares denote gene amplifications and purple squares indicate truncating mutations. The identified fusion genes and HRAS mutations were mutually exclusive in 38 spitzoid neoplasms. Mutations in PKHD1, ERBB4, LRP1B, and amplifications of MCL1 and CCNE1 are of unknown significance and co-occurred with kinase fusions and HRAS mutations. (b) Illustration of the distinct fusion genes for the ROS1, ALK, NTRK1, RET and BRAF rearrangements. The grey bars represent the exons of the genes, the numbers below the bars the exon number and the blue line the predicted breakpoints. The green shaded areas indicate the kinase domain and the blue shaded areas the coiled-coil domain of the fusion gene product. In the TP53–NTRK1 fusion transcript, multiple breakpoints spanning exon 8–12 of TP53 were predicted.