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Co-amplification of MYC and CCNE1 in aggressive childhood osteosarcoma

Osteosarcoma, the most common primary malignant tumour of bone, affects children and adults alike. No fundamental biological differences between paediatric and adult osteosarcoma are known. Here, we apply multi-region whole genome sequencing to an index case of a four-year old child whose aggressive tumour harboured high level, focal amplifications of MYC and CCNE1 connected by translocations. We re-analysed copy number readouts of 258 cases of high-grade osteosarcoma from three different cohorts and identified an additional three cases with MYC and CCNE1 co-amplification, confined to children and associated with aggressive disease. Examining the age distribution of MYC and CCNE1 amplicons across all cases revealed a significant enrichment of focal MYC amplification in children, whereas CCNE1 amplification is not strictly restricted to children. Our findings indicate that amplification of the MYC oncogene, known to be associated with a poor outcome, delineates a variant of osteosarcoma specific to childhood. When co-amplified with CCNE1, it may herald an aggressive disease course.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002167 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00004855673 cram 6.4 GB
EGAF00004855678 cram 6.4 GB
EGAF00004855683 cram 6.5 GB
EGAF00004855688 cram 6.5 GB
EGAF00004855693 cram 6.4 GB
EGAF00004855698 cram 5.6 GB
EGAF00004855700 cram 5.1 GB
EGAF00004855701 cram 5.6 GB
EGAF00004855702 cram 5.5 GB
EGAF00004855703 cram 5.9 GB
EGAF00004855704 cram 5.3 GB
EGAF00004855706 cram 4.8 GB
EGAF00004855707 cram 5.4 GB
EGAF00004855708 cram 5.2 GB
EGAF00004855709 cram 5.6 GB
EGAF00004855710 cram 5.3 GB
EGAF00004855712 cram 4.9 GB
EGAF00004855713 cram 5.4 GB
EGAF00004855714 cram 5.3 GB
EGAF00004855715 cram 5.6 GB
EGAF00004855716 cram 5.2 GB
EGAF00004855718 cram 4.8 GB
EGAF00004855719 cram 5.3 GB
EGAF00004855720 cram 5.2 GB
EGAF00004855721 cram 5.5 GB
EGAF00004855722 cram 5.4 GB
EGAF00004855724 cram 4.9 GB
EGAF00004855725 cram 5.4 GB
EGAF00004855726 cram 5.3 GB
EGAF00004855727 cram 5.7 GB
EGAF00004855728 cram 5.3 GB
EGAF00004855730 cram 4.9 GB
EGAF00004855731 cram 5.4 GB
EGAF00004855732 cram 5.3 GB
EGAF00004855733 cram 5.6 GB
EGAF00004855734 cram 32.6 GB
EGAF00004855735 cram 33.4 GB
EGAF00004855736 cram 31.8 GB
EGAF00004965488 cram 32.5 GB
EGAF00004965489 cram 33.0 GB
40 Files (355.2 GB)