The driver landscape of sporadic chordoma

Patrick S. Tarpey, Sam Behjati, Matthew D. Young, Inigo Martincorena, Ludmil B. Alexandrov, Sarah J. Farndon, Charlotte Guzzo, Claire Hardy, Calli Latimer, Adam P. Butler, Jon W. Teague, Adam Shlien, P. Andrew Futreal, Sohrab Shah, Ali Bashashati, Farzad Jamshidi, Torsten O. Nielsen, David Huntsman, Daniel Baumhoer, Sebastian Brandner, Jay Wunder, Brendan Dickson, Patricia Cogswell, Josh Sommer, Joanna J. Phillips, M. Fernanda Amary, Roberto Tirabosco, Nischalan Pillay, Stephen Yip, Michael R. Stratton, Adrienne M. Flanagan and Peter J. Campbell ()
Additional contact information
Patrick S. Tarpey: Wellcome Trust Genome Campus
Sam Behjati: Wellcome Trust Genome Campus
Matthew D. Young: Wellcome Trust Genome Campus
Inigo Martincorena: Wellcome Trust Genome Campus
Ludmil B. Alexandrov: Los Alamos National Laboratory
Sarah J. Farndon: Wellcome Trust Genome Campus
Charlotte Guzzo: Wellcome Trust Genome Campus
Claire Hardy: Wellcome Trust Genome Campus
Calli Latimer: Wellcome Trust Genome Campus
Adam P. Butler: Wellcome Trust Genome Campus
Jon W. Teague: Wellcome Trust Genome Campus
Adam Shlien: The Hospital for Sick Children
P. Andrew Futreal: University of Texas
Sohrab Shah: University of British Columbia
Ali Bashashati: University of British Columbia
Farzad Jamshidi: University of British Columbia
Torsten O. Nielsen: University of British Columbia
David Huntsman: University of British Columbia
Daniel Baumhoer: University Hospital Basel, University of Basel
Sebastian Brandner: University College Hospital NHS Foundation Trust and UCL Institute of Neurology
Jay Wunder: Mount Sinai Hospital
Brendan Dickson: Mount Sinai Hospital
Patricia Cogswell: Chordoma Foundation
Josh Sommer: Chordoma Foundation
Joanna J. Phillips: University of California
M. Fernanda Amary: Royal National Orthopaedic Hospital NHS Trust
Roberto Tirabosco: Royal National Orthopaedic Hospital NHS Trust
Nischalan Pillay: Royal National Orthopaedic Hospital NHS Trust
Stephen Yip: University of British Columbia
Michael R. Stratton: Wellcome Trust Genome Campus
Adrienne M. Flanagan: Royal National Orthopaedic Hospital NHS Trust
Peter J. Campbell: Wellcome Trust Genome Campus

Nature Communications, 2017, vol. 8, issue 1, 1-6

Abstract: Abstract Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.

Date: 2017
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_s41467-017-01026-0

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DOI: 10.1038/s41467-017-01026-0

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