Fig. 2
FGFR glioblastoma genomic analysis. a NGS analysis showing color-coded alterations. White boxes indicate lack of mutations. CNV: ↑, CN ≥ 8; ↓, CN = 0. Red * indicates lack of TERT promoter inclusion in the whole exome NGS. b Variant allele fraction (VAF) of the indicated mutations from F48 samples. DIS6 shows proportionally lower values due to a higher normal component within the sample. c Schematic diagram of the FGFR2 and FGFR3 fusions and duplication. Protein amino acids numbers are shown. Domains are indicated: EC, extracellular; TM, transmembrane; TK, tyrosine kinase ; CT, C-tail; TACC, transforming acidic coiled-coil; R6-R13, talin rod helical bundles 6–13; DD, dimerization domain. Binding sites for the indicated proteins are shown . For FGFR2-TACC2, the hybrid protein joined the last residue, E767, of FGFR2 coding exon 16 (Isoform 1, FGFR2IIIc, NM_000141), to the first residue, R2710, of TACC2 exon 17. d CNV heatmap showing the extent of chromosomal involvement by CNVs. The library used for the CNV analysis is shown at the bottom. e Transcriptomics expression analysis showing the relative mRNA expression of genes with amplification