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Osteosarcoma_X10

This is a continuation of the osteosarcoma work we have undertaken.

Type: Cancer Genomics
Archiver: EGA European Genome-Phenome Archive

2 Datasets 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001006423	Leukaemia and related blood cancers occur due to genetic changes that typically accumulate over many years. This study will employ targeted next-generation sequencing to retrace the preclinical evolution of several types of haematological malignancy. Investigating the progression of the earliest pre-malignant ancestral clones promises to offer valuable insights into early leukaemia evolution and therapeutic vulnerabilities of leukaemia stem cells.	HiSeq X Ten Illumina NovaSeq 6000	137
EGAD00001006859	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.	HiSeq X Ten	8

Publications	Citations
Clonal hematopoiesis and therapy-related myeloid neoplasms following neuroblastoma treatment. Coorens THH, Collord G, Lu W, Mitchell E, Ijaz J, Roberts T, Oliver TRW, Burke GAA, Gattens M, Dickens E, Nangalia J, Tischkowitz M, Anderson J, Shlien A, Godfrey AL, Murray MJ, Behjati S. Blood 137: 2021 2992-2997	13
MYC amplifications are common events in childhood osteosarcoma. De Noon S, Ijaz J, Coorens TH, Amary F, Ye H, Strobl A, Lyskjaer I, Flanagan AM, Behjati S. J Pathol Clin Res 7: 2021 425-431	4