Fig. 3

Genomic profiling. a Summary table of genomic and transcriptomic analysis, and bar graph of somatic mutation composition and VAF. Color-coded shading indicates mutant variants, whereas white rectangles correspond to wild-type variants. RNA overexpression is shown by red rectangles. The VAF of individual mutations was normalized to the highest VAF in a given sample, that was arbitrarily set to 100%, due to LOH (see Material and methods). FrTemp, frontotemporal (initial mass); Front, frontal; Temp, temporal; Cereb, cerebellum; Loss, homozygous CN loss; #, additional TP53 mutation in the lung specimen. b Chromosomal CN array from the adjacent frontal and temporal recurrences showing common chromosomal alterations but also divergence of the temporal tumor by extensive chromosome losses. Both tumors have loss of chromosome 10, and the frontal mass has gain of chromosome 7, whereas the temporal mass has a more complex CN gain and LOH of chromosome 7. The RB1 locus with homozygous CN loss is encircled, and the loci for FANCD2 and MET are indicated by arrowheads. c TMB representation showing significant mutation accumulation in the lung mass