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.
- 8 samples
- DAC: EGAC00001000000
- Technology: HiSeq X Ten
- PUB DUO:0000019 (version: 2021-02-23)publication requiredThis data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
- US DUO:0000026 (version: 2021-02-23)user specific restrictionThis data use modifier indicates that use is limited to use by approved users.
- IS DUO:0000028 (version: 2021-02-23)institution specific restrictionThis data use modifier indicates that use is limited to use within an approved institution.
- GRU DUO:0000042 (version: 2021-02-23)general research useThis data use permission indicates that use is allowed for general research use for any research purpose.
Wellcome Trust Sanger Institute Cancer Genome Group Data Sharing Policy
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 |
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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 | |
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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) |