Integrative genomic and transcriptomic analysis of leiomyosarcoma

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Priya Chudasama - , German Cancer Research Center (DKFZ) (Author)
  • Sadaf S. Mughal - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Mathijs A. Sanders - , Erasmus University Rotterdam, Wellcome Sanger Institute (Author)
  • Daniel Hübschmann - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Inn Chung - , German Cancer Research Center (DKFZ) (Author)
  • Katharina I. Deeg - , German Cancer Research Center (DKFZ) (Author)
  • Siao Han Wong - , German Cancer Research Center (DKFZ) (Author)
  • Sophie Rabe - , German Cancer Research Center (DKFZ) (Author)
  • Mario Hlevnjak - , German Cancer Research Center (DKFZ) (Author)
  • Marc Zapatka - , German Cancer Research Center (DKFZ) (Author)
  • Aurélie Ernst - , German Cancer Research Center (DKFZ) (Author)
  • Kortine Kleinheinz - , German Cancer Research Center (DKFZ) (Author)
  • Matthias Schlesner - , German Cancer Research Center (DKFZ) (Author)
  • Lina Sieverling - , German Cancer Research Center (DKFZ) (Author)
  • Barbara Klink - , National Center for Tumor Diseases Dresden, Institute of Clinical Genetics, University Hospital Carl Gustav Carus Dresden, German Cancer Consortium (DKTK) Partner Site Dresden (Author)
  • Evelin Schröck - , National Center for Tumor Diseases Dresden, Institute of Clinical Genetics, University Hospital Carl Gustav Carus Dresden, German Cancer Consortium (DKTK) Partner Site Dresden (Author)
  • Remco M. Hoogenboezem - , Erasmus University Rotterdam (Author)
  • Bernd Kasper - , Heidelberg University  (Author)
  • Christoph E. Heilig - , Heidelberg University  (Author)
  • Gerlinde Egerer - , Heidelberg University  (Author)
  • Stephan Wolf - , German Cancer Research Center (DKFZ) (Author)
  • Christof Von Kalle - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Roland Eils - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Albrecht Stenzinger - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Wilko Weichert - , Technical University of Munich, German Cancer Consortium (DKTK) partner site Munich (Author)
  • Hanno Glimm - , German Cancer Research Center (DKFZ), National Center for Tumor Diseases (NCT) Heidelberg, German Cancer Consortium (DKTK) Core Center Heidelberg, University Hospital Heidelberg (Author)
  • Stefan Gröschel - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Hans Georg Kopp - , University of Tübingen, German Cancer Consortium (DKTK) partner site Tübingen (Author)
  • Georg Omlor - , Heidelberg University  (Author)
  • Burkhard Lehner - , Heidelberg University  (Author)
  • Sebastian Bauer - , University of Duisburg-Essen, German Cancer Consortium (DKTK) partner site Essen / Düsseldorf (Author)
  • Simon Schimmack - , Heidelberg University  (Author)
  • Alexis Ulrich - , Heidelberg University  (Author)
  • Gunhild Mechtersheimer - , Heidelberg University  (Author)
  • Karsten Rippe - , German Cancer Research Center (DKFZ) (Author)
  • Benedikt Brors - , German Cancer Research Center (DKFZ) (Author)
  • Barbara Hutter - , German Cancer Research Center (DKFZ) (Author)
  • Marcus Renner - , Heidelberg University  (Author)
  • Peter Hohenberger - , Heidelberg University  (Author)
  • Claudia Scholl - , German Cancer Research Center (DKFZ) (Author)
  • Stefan Fröhling - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)

Abstract

Leiomyosarcoma (LMS) is an aggressive mesenchymal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically actionable genetic vulnerabilities, are largely unknown. Here we show, using whole-exome and transcriptome sequencing, that LMS tumors are characterized by substantial mutational heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations including chromothripsis, and frequent whole-genome duplication. Furthermore, we detect alternative telomere lengthening in 78% of cases and identify recurrent alterations in telomere maintenance genes such as ATRX, RBL2, and SP100, providing insight into the genetic basis of this mechanism. Finally, most tumors display hallmarks of "BRCAness", including alterations in homologous recombination DNA repair genes, multiple structural rearrangements, and enrichment of specific mutational signatures, and cultured LMS cells are sensitive towards olaparib and cisplatin. This comprehensive study of LMS genomics has uncovered key biological features that may inform future experimental research and enable the design of novel therapies.

Details

Original languageEnglish
Article number144
JournalNature communications
Volume9
Issue number1
Publication statusPublished - 1 Dec 2018
Peer-reviewedYes

External IDs

PubMed 29321523
ORCID /0009-0003-2782-8190/work/198593773