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Iben Lyskjær Heimann

MYC amplifications are common events in childhood osteosarcoma

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  • Solange De Noon, University College London
  • ,
  • Jannat Ijaz, Wellcome Sanger Institute
  • ,
  • Tim H.H. Coorens, Wellcome Sanger Institute
  • ,
  • Fernanda Amary, Royal National Orthopaedic Hospital NHS Trust
  • ,
  • Hongtao Ye, Royal National Orthopaedic Hospital NHS Trust
  • ,
  • Anna Strobl, Royal National Orthopaedic Hospital NHS Trust
  • ,
  • Iben Lyskjær
  • Adrienne M. Flanagan, University College London, Royal National Orthopaedic Hospital NHS Trust
  • ,
  • Sam Behjati, Wellcome Sanger Institute, Cambridge University Hospitals NHS Foundation Trust, Department of Paediatrics

Osteosarcoma, the most common primary malignant tumour of bone, affects both children and adults. 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 4-year-old child whose aggressive tumour harboured high-level, focal amplifications of MYC and CCNE1 connected by translocations. We reanalysed copy number readouts of 258 cases of high-grade osteosarcoma from three different cohorts and identified a significant enrichment of focal MYC, but not CCNE1, amplifications in children. Furthermore, we identified four additional cases of MYC and CCNE1 coamplification, highlighting a rare driver event which warrants further investigation. Our findings indicate that amplification of the MYC oncogene is a major driver of childhood osteosarcoma, while CCNE1 appears recurrently amplified independent of age.

Original languageEnglish
JournalJournal of Pathology: Clinical Research
Pages (from-to)425-431
Publication statusPublished - Sept 2021
Externally publishedYes

Bibliographical note

© 2021 The Authors. The Journal of Pathology: Clinical Research published by The Pathological Society of Great Britain and Ireland & John Wiley & Sons, Ltd.

    Research areas

  • CCNE1, copy number variants, genomics, MYC, osteosarcoma

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