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. 2021 Nov 23;12:6804. doi: 10.1038/s41467-021-26870-z

Fig. 4. Primary and metastatic tumour evolution inferred by genetic analysis of clonality.

Fig. 4

a Single-nucleotide variant- (SNV)-based phylogenetic trees depict variable clonal diversification. Branch lengths correspond to the total numbers of SNVs. Branch colours represent different subclones. Numbers at the end of each branch indicate samples containing all clones (numbers in circles) of the branch and its ancestor clones. Samples were collected at diagnosis (orange), at tumour resection (red) and at diagnosis of relapse (turquoise). Metastatic samples are indicated by asterisks. A deeper data showcase is provided for patient CB1001, showing SNV- (b) and somatic copy-number alteration- (SCNA)-based trees (c). d SCNA plots from sample 15 (rainbow) showing a loss of heterozygosity (LOH) event on chromosome 6q that is absent in the metastastic sample 11 (green). e SCNA plots from the metastatic sample 11 (green shaded) and primary tumour sample 15 (rainbow) showing an mirrored subclonal allelic imbalances (MSAI) event on chromosome 9. SNV tree (f) compared to SCNA phylogeny (g) in CB1003. Time point or spatial position is indicated by shading, none (metastasis), grey (biopsy at diagnosis) and green (tumour resection). h Dynamic acquisition of additional copies of the MYCN locus on chromosome 2p. i Monoallelic gain on chromosome 9q in the tumour resection samples. (green) but not in the metastatic clone.