Defective homologous recombination DNA repair as therapeutic target in advanced chordoma

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Stefan Gröschel - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Daniel Hübschmann - , German Cancer Research Center (DKFZ), Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM gGmbH), Heidelberg University  (Author)
  • Francesco Raimondi - , Heidelberg University  (Author)
  • Peter Horak - , German Cancer Research Center (DKFZ) (Author)
  • Gregor Warsow - , German Cancer Research Center (DKFZ) (Author)
  • Martina Fröhlich - , German Cancer Research Center (DKFZ) (Author)
  • Barbara Klink - , German Cancer Consortium (Partner: DKTK, DKFZ), Institute of Clinical Genetics, University Hospital Carl Gustav Carus Dresden (Author)
  • Laura Gieldon - , German Cancer Consortium (Partner: DKTK, DKFZ), Institute of Clinical Genetics, University Hospital Carl Gustav Carus Dresden (Author)
  • Barbara Hutter - , German Cancer Research Center (DKFZ) (Author)
  • Kortine Kleinheinz - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • David Bonekamp - , German Cancer Research Center (DKFZ) (Author)
  • Oliver Marschal - , Onkologische Schwerpunktpraxis (Author)
  • Priya Chudasama - , German Cancer Research Center (DKFZ) (Author)
  • Jagoda Mika - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Marie Groth - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Sebastian Uhrig - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Stephen Krämer - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Christoph Heining - , German Cancer Consortium (Partner: DKTK, DKFZ), National Center for Tumor Diseases Dresden, University Hospital Carl Gustav Carus Dresden (Author)
  • Christoph E. Heilig - , German Cancer Research Center (DKFZ) (Author)
  • Daniela Richter - , German Cancer Consortium (DKTK) Partner Site Dresden, University Hospital Carl Gustav Carus Dresden (Author)
  • Eva Reisinger - , German Cancer Research Center (DKFZ) (Author)
  • Katrin Pfütze - , German Cancer Research Center (DKFZ) (Author)
  • Roland Eils - , German Cancer Research Center (DKFZ) (Author)
  • Stephan Wolf - , German Cancer Research Center (DKFZ) (Author)
  • Christof von Kalle - , German Cancer Research Center (DKFZ) (Author)
  • Christian Brandts - , Goethe University Frankfurt a.M., German Cancer Consortium (DKTK) partner site Frankfurt/Mainz (Author)
  • Claudia Scholl - , German Cancer Research Center (DKFZ) (Author)
  • Wilko Weichert - , Technical University of Munich, German Cancer Consortium (DKTK) partner site Munich (Author)
  • Stephan Richter - , German Cancer Consortium (Partner: DKTK, DKFZ), Department of Internal Medicine I, University Hospital Carl Gustav Carus Dresden (Author)
  • Sebastian Bauer - , University of Duisburg-Essen, German Cancer Consortium (DKTK) partner site Essen / Düsseldorf (Author)
  • Roland Penzel - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Evelin Schröck - , German Cancer Consortium (Partner: DKTK, DKFZ), Institute of Clinical Genetics, University Hospital Carl Gustav Carus Dresden (Author)
  • Albrecht Stenzinger - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Richard F. Schlenk - , Heidelberg University , German Cancer Research Center (DKFZ) (Author)
  • Benedikt Brors - , German Cancer Research Center (DKFZ) (Author)
  • Robert B. Russell - , Heidelberg University  (Author)
  • Hanno Glimm - , German Cancer Consortium (Partner: DKTK, DKFZ), National Center for Tumor Diseases Dresden, University Hospital Carl Gustav Carus Dresden (Author)
  • Matthias Schlesner - , German Cancer Research Center (DKFZ) (Author)
  • Stefan Fröhling - , German Cancer Research Center (DKFZ) (Author)

Abstract

Chordomas are rare bone tumors with few therapeutic options. Here we show, using whole-exome and genome sequencing within a precision oncology program, that advanced chordomas (n = 11) may be characterized by genomic patterns indicative of defective homologous recombination (HR) DNA repair and alterations affecting HR-related genes, including, for example, deletions and pathogenic germline variants of BRCA2, NBN, and CHEK2. A mutational signature associated with HR deficiency was significantly enriched in 72.7% of samples and co-occurred with genomic instability. The poly(ADP-ribose) polymerase (PARP) inhibitor olaparib, which is preferentially toxic to HR-incompetent cells, led to prolonged clinical benefit in a patient with refractory chordoma, and whole-genome analysis at progression revealed a PARP1 p.T910A mutation predicted to disrupt the autoinhibitory PARP1 helical domain. These findings uncover a therapeutic opportunity in chordoma that warrants further exploration, and provide insight into the mechanisms underlying PARP inhibitor resistance.

Details

Original languageEnglish
Article number1635
JournalNature communications
Volume10
Issue number1
Publication statusPublished - 1 Dec 2019
Peer-reviewedYes

External IDs

PubMed 30967556