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MYC amplifications are common events in childhood osteosarcoma.

Published version
Peer-reviewed

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Authors

Ijaz, Jannat 
Coorens, Tim Hh 
Amary, Fernanda 
Ye, Hongtao 

Abstract

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.

Description

Funder: Bone Cancer Research Trust; Id: http://dx.doi.org/10.13039/100011719


Funder: The Tom Prince Cancer Trust


Funder: Wellcome Trust; Id: http://dx.doi.org/10.13039/100010269


Funder: Jean Shanks Foundation – Pathological Society Clinical Fellowship


Funder: UCL Experimental Cancer Centre


Funder: UCLH Biomedical Research Centre; Id: http://dx.doi.org/10.13039/501100012317


Funder: National Institute for Health Research; Id: http://dx.doi.org/10.13039/501100000272

Keywords

CCNE1, MYC, copy number variants, genomics, osteosarcoma, Adolescent, Adult, Aged, Aged, 80 and over, Aging, Child, Child, Preschool, Cyclin E, Female, Gene Amplification, Genes, myc, Humans, Male, Middle Aged, Oncogene Proteins, Osteosarcoma

Journal Title

J Pathol Clin Res

Conference Name

Journal ISSN

2056-4538
2056-4538

Volume Title

Publisher

Wiley
Sponsorship
Lundbeck Foundation (R303‐2018‐3018)