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. 2025 Aug 21;16:7689. doi: 10.1038/s41467-025-62673-2

Fig. 3. Genetic characterization of small round cell sarcoma tumoroid models.

Fig. 3

A Oncoplot depicting somatic mutations, copy number alterations (CNAs) and gene fusions identified in ES, CDS and BRS tumors and matching tumoroids. For samples in which the germline sample was not available (*), mutations in known tumor driver genes are indicated. For samples for which no sequencing data was available, the mutational information provided by the ITCC-P4 consortium is indicated (+). B Circos plots of ES-010 tumor and tumoroid. The circos plots show, from outside inwards: chromosomes, single-nucleotide variants (SNVs) (dark blue), copy number alterations (CNAs) as gained (red) or lost (light blue) regions and translocations (red line). C Circos plots of tumoroids derived from one EWSR1::FLI1 patient (top row; diagnostic [ES-016], first relapse [ES-055] and second relapse [ES-080] samples) and one CIC::DUX4 patient (bottom row; diagnostic [CDS-090], resection [CDS-032] and relapse [CDS-045] samples) at different timepoints during disease progression. The circos plots show, from outside inwards: chromosomes, single-nucleotide variants (SNVs) (dark blue), copy number alterations (CNAs) as gained (red) or lost (light blue) regions and translocations (red line). D River plot depicting differential clusters of mutations between time of diagnosis (ES-016), first relapse (ES-055) and second relapse (ES-080) tumor sample from one EWSR1::FLI1 patient. E The mean variant allele frequency of individual clusters of mutations in tumor and matching tumoroid samples in diagnostic (ES-016), first relapse (ES-055) and second relapse (ES-080) samples from one EWSR1::FLI1 patient. F Contribution of somatic mutational signatures per tumor and matching tumoroid model. SBS single base substitution, TT Tumor Tissue, TO TumorOid, ES Ewing sarcoma, CDS CIC::DUX4 sarcoma, BRS BCOR-rearranged sarcoma. Source data are provided as a Source Data file.