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The driver landscape of sporadic chordoma

Author

Listed:
  • Patrick S. Tarpey

    (Wellcome Trust Genome Campus)

  • Sam Behjati

    (Wellcome Trust Genome Campus
    University of Cambridge
    Corpus Christi College)

  • 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
    UCL Great Ormond Street Institute of Child Health)

  • 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
    University College London Cancer Institute)

  • Stephen Yip

    (University of British Columbia)

  • Michael R. Stratton

    (Wellcome Trust Genome Campus)

  • Adrienne M. Flanagan

    (Royal National Orthopaedic Hospital NHS Trust
    University College London Cancer Institute)

  • Peter J. Campbell

    (Wellcome Trust Genome Campus
    University of Cambridge)

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.

Suggested Citation

  • 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 & Ad, 2017. "The driver landscape of sporadic chordoma," Nature Communications, Nature, vol. 8(1), pages 1-6, December.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_s41467-017-01026-0
    DOI: 10.1038/s41467-017-01026-0
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    Cited by:

    1. Tanaz Sharifnia & Mathias J. Wawer & Amy Goodale & Yenarae Lee & Mariya Kazachkova & Joshua M. Dempster & Sandrine Muller & Joan Levy & Daniel M. Freed & Josh Sommer & Jérémie Kalfon & Francisca Vazqu, 2023. "Mapping the landscape of genetic dependencies in chordoma," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    2. Qilin Zhang & Ziyan Xu & Rui Han & Yunzhi Wang & Zhen Ye & Jiajun Zhu & Yixin Cai & Fan Zhang & Jiangyan Zhao & Boyuan Yao & Zhaoyu Qin & Nidan Qiao & Ruofan Huang & Jinwen Feng & Yongfei Wang & Wenti, 2024. "Proteogenomic characterization of skull-base chordoma," Nature Communications, Nature, vol. 15(1), pages 1-32, December.
    3. Cassie L. Kemmler & Jana Smolikova & Hannah R. Moran & Brandon J. Mannion & Dunja Knapp & Fabian Lim & Anna Czarkwiani & Viviana Hermosilla Aguayo & Vincent Rapp & Olivia E. Fitch & Seraina Bötschi & , 2023. "Conserved enhancers control notochord expression of vertebrate Brachyury," Nature Communications, Nature, vol. 14(1), pages 1-18, December.

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