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The landscape of chromothripsis across adult cancer types

Author

Listed:
  • Natalia Voronina

    (DKFZ
    DKFZ
    German Cancer Consortium (DKTK))

  • John K. L. Wong

    (DKFZ
    German Cancer Consortium (DKTK))

  • Daniel Hübschmann

    (German Cancer Consortium (DKTK)
    DKFZ
    Heidelberg Institute for Stem cell Technology and Experimental Medicine (HI-STEM)
    Heidelberg University Hospital)

  • Mario Hlevnjak

    (DKFZ
    DKFZ)

  • Sebastian Uhrig

    (DKFZ
    DKFZ and NCT Heidelberg
    Heidelberg University)

  • Christoph E. Heilig

    (German Cancer Consortium (DKTK)
    National Center for Tumor Diseases (NCT) Heidelberg and DKFZ
    DKFZ-Heidelberg Center for Personalized Oncology (HIPO))

  • Peter Horak

    (German Cancer Consortium (DKTK)
    National Center for Tumor Diseases (NCT) Heidelberg and DKFZ
    DKFZ-Heidelberg Center for Personalized Oncology (HIPO))

  • Simon Kreutzfeldt

    (German Cancer Consortium (DKTK)
    National Center for Tumor Diseases (NCT) Heidelberg and DKFZ
    DKFZ-Heidelberg Center for Personalized Oncology (HIPO))

  • Andreas Mock

    (German Cancer Consortium (DKTK)
    National Center for Tumor Diseases (NCT) Heidelberg and DKFZ
    DKFZ-Heidelberg Center for Personalized Oncology (HIPO))

  • Albrecht Stenzinger

    (Heidelberg University Hospital)

  • Barbara Hutter

    (DKFZ
    DKFZ and NCT Heidelberg)

  • Martina Fröhlich

    (DKFZ
    DKFZ and NCT Heidelberg)

  • Benedikt Brors

    (DKFZ and NCT Heidelberg)

  • Arne Jahn

    (German Cancer Consortium (DKTK)
    German Cancer Research Center (DKFZ)
    National Center for Tumor Diseases (NCT)
    NCT Dresden, Dresden, and DKFZ)

  • Barbara Klink

    (German Cancer Consortium (DKTK)
    German Cancer Research Center (DKFZ)
    National Center for Tumor Diseases (NCT)
    National Center of Genetics (NCG), Laboratoire national de santé (LNS))

  • Laura Gieldon

    (German Cancer Consortium (DKTK)
    National Center for Tumor Diseases (NCT) Heidelberg and DKFZ
    DKFZ-Heidelberg Center for Personalized Oncology (HIPO))

  • Lina Sieverling

    (DKFZ and NCT Heidelberg)

  • Lars Feuerbach

    (DKFZ and NCT Heidelberg)

  • Priya Chudasama

    (DKFZ, National Center for Tumor (NCT) Diseases)

  • Katja Beck

    (German Cancer Consortium (DKTK)
    National Center for Tumor Diseases (NCT) Heidelberg and DKFZ
    DKFZ-Heidelberg Center for Personalized Oncology (HIPO))

  • Matthias Kroiss

    (University Hospital Würzburg)

  • Christoph Heining

    (NCT Dresden, Dresden, and DKFZ
    University Hospital Carl Gustav Carus Dresden, Technical University of Dresden
    German Cancer Consortium (DKTK))

  • Lino Möhrmann

    (NCT Dresden, Dresden, and DKFZ
    University Hospital Carl Gustav Carus Dresden, Technical University of Dresden
    German Cancer Consortium (DKTK))

  • Andrea Fischer

    (German Cancer Consortium (DKTK)
    German Cancer Research Center (DKFZ)
    National Center for Tumor Diseases (NCT))

  • Evelin Schröck

    (German Cancer Consortium (DKTK)
    German Cancer Research Center (DKFZ)
    National Center for Tumor Diseases (NCT))

  • Hanno Glimm

    (NCT Dresden, Dresden, and DKFZ
    University Hospital Carl Gustav Carus Dresden, Technical University of Dresden
    German Cancer Consortium (DKTK))

  • Marc Zapatka

    (DKFZ
    German Cancer Consortium (DKTK))

  • Peter Lichter

    (DKFZ
    German Cancer Consortium (DKTK))

  • Stefan Fröhling

    (German Cancer Consortium (DKTK)
    National Center for Tumor Diseases (NCT) Heidelberg and DKFZ
    DKFZ-Heidelberg Center for Personalized Oncology (HIPO))

  • Aurélie Ernst

    (DKFZ
    DKFZ
    German Cancer Consortium (DKTK))

Abstract

Chromothripsis is a recently identified mutational phenomenon, by which a presumably single catastrophic event generates extensive genomic rearrangements of one or a few chromosome(s). Considered as an early event in tumour development, this form of genome instability plays a prominent role in tumour onset. Chromothripsis prevalence might have been underestimated when using low-resolution methods, and pan-cancer studies based on sequencing are rare. Here we analyse chromothripsis in 28 tumour types covering all major adult cancers (634 tumours, 316 whole-genome and 318 whole-exome sequences). We show that chromothripsis affects a substantial proportion of human cancers, with a prevalence of 49% across all cases. Chromothripsis generates entity-specific genomic alterations driving tumour development, including clinically relevant druggable fusions. Chromothripsis is linked with specific telomere patterns and univocal mutational signatures in distinct tumour entities. Longitudinal analysis of chromothriptic patterns in 24 matched tumour pairs reveals insights in the clonal evolution of tumours with chromothripsis.

Suggested Citation

  • Natalia Voronina & John K. L. Wong & Daniel Hübschmann & Mario Hlevnjak & Sebastian Uhrig & Christoph E. Heilig & Peter Horak & Simon Kreutzfeldt & Andreas Mock & Albrecht Stenzinger & Barbara Hutter , 2020. "The landscape of chromothripsis across adult cancer types," Nature Communications, Nature, vol. 11(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-16134-7
    DOI: 10.1038/s41467-020-16134-7
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    Cited by:

    1. Qing Hu & Jose Espejo Valle-Inclán & Rashmi Dahiya & Alison Guyer & Alice Mazzagatti & Elizabeth G. Maurais & Justin L. Engel & Huiming Lu & Anthony J. Davis & Isidro Cortés-Ciriano & Peter Ly, 2024. "Non-homologous end joining shapes the genomic rearrangement landscape of chromothripsis from mitotic errors," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
    2. Petr Smirnov & Moritz J. Przybilla & Milena Simovic-Lorenz & R. Gonzalo Parra & Hana Susak & Manasi Ratnaparkhe & John KL. Wong & Verena Körber & Jan-Philipp Mallm & George Philippos & Martin Sill & T, 2024. "Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    3. Xue-Ke Zhao & Pengwei Xing & Xin Song & Miao Zhao & Linxuan Zhao & Yonglong Dang & Ling-Ling Lei & Rui-Hua Xu & Wen-Li Han & Pan-Pan Wang & Miao-Miao Yang & Jing-Feng Hu & Kan Zhong & Fu-You Zhou & Xu, 2021. "Focal amplifications are associated with chromothripsis events and diverse prognoses in gastric cardia adenocarcinoma," Nature Communications, Nature, vol. 12(1), pages 1-14, December.
    4. Kim Wong & Justin A. Bishop & Ilan Weinreb & Marialetizia Motta & Martin Del Castillo Velasco-Herrera & Emanuele Bellacchio & Ingrid Ferreira & Louise van der Weyden & Jacqueline M. Boccacino & Antone, 2025. "Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma," Nature Communications, Nature, vol. 16(1), pages 1-18, December.
    5. Hanna Braun & Ziyan Xu & Fiona Chang & Nikenza Viceconte & Grishma Rane & Michal Levin & Liudmyla Lototska & Franziska Roth & Alexia Hillairet & Albert Fradera-Sola & Vartika Khanchandani & Zi Wayne S, 2023. "ZNF524 directly interacts with telomeric DNA and supports telomere integrity," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    6. Bingxin Lu & Samuel Winnall & William Cross & Chris P. Barnes, 2025. "Cell-cycle dependent DNA repair and replication unifies patterns of chromosome instability," Nature Communications, Nature, vol. 16(1), pages 1-18, December.
    7. Yoshitaka Sakamoto & Shuhei Miyake & Miho Oka & Akinori Kanai & Yosuke Kawai & Satoi Nagasawa & Yuichi Shiraishi & Katsushi Tokunaga & Takashi Kohno & Masahide Seki & Yutaka Suzuki & Ayako Suzuki, 2022. "Phasing analysis of lung cancer genomes using a long read sequencer," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    8. Vázquez López, Raul, 2023. "La competitividad de las exportaciones del sector químico mexicano en los Estados Unidos de América y la Unión Europea, 1994-2015," Apuntes del Cenes, Universidad Pedagógica y Tecnológica de Colombia, vol. 42(75), pages 83-109, January.
    9. Feifei Xie & Shuzhen Luo & Dongbing Liu & Xiaojing Lu & Ming Wang & Xiaoxiao Liu & Fujian Jia & Yuzhi Pang & Yanying Shen & Chunling Zeng & Xinli Ma & Daoqiang Tang & Lin Tu & Linxi Yang & Yumei Cheng, 2024. "Genomic and transcriptomic landscape of human gastrointestinal stromal tumors," Nature Communications, Nature, vol. 15(1), pages 1-20, December.

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