IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v11y2020i1d10.1038_s41467-020-16546-5.html
   My bibliography  Save this article

The genomic and epigenomic evolutionary history of papillary renal cell carcinomas

Author

Listed:
  • Bin Zhu

    (National Cancer Institute, NIH, DHHS)

  • Maria Luana Poeta

    (Biotechnology and Biopharmaceutics, University of Bari)

  • Manuela Costantini

    (Biotechnology and Biopharmaceutics, University of Bari
    “Regina Elena” National Cancer Institute)

  • Tongwu Zhang

    (National Cancer Institute, NIH, DHHS)

  • Jianxin Shi

    (National Cancer Institute, NIH, DHHS)

  • Steno Sentinelli

    (“Regina Elena” National Cancer Institute)

  • Wei Zhao

    (National Cancer Institute, NIH, DHHS)

  • Vincenzo Pompeo

    (“Regina Elena” National Cancer Institute)

  • Maurizio Cardelli

    (Advanced Technology Center for Aging Research, IRCCS INRCA)

  • Boian S. Alexandrov

    (Los Alamos National Laboratory)

  • Burcak Otlu

    (University of California, San Diego)

  • Xing Hua

    (National Cancer Institute, NIH, DHHS)

  • Kristine Jones

    (Frederick National Laboratory for Cancer Research)

  • Seth Brodie

    (Frederick National Laboratory for Cancer Research)

  • Malgorzata Ewa Dabrowska

    (“Regina Elena” National Cancer Institute
    University Campus Bio-Medico of Rome)

  • Jorge R. Toro

    (Washington, DC Veteran Affairs Medical Center)

  • Meredith Yeager

    (Frederick National Laboratory for Cancer Research)

  • Mingyi Wang

    (Frederick National Laboratory for Cancer Research)

  • Belynda Hicks

    (Frederick National Laboratory for Cancer Research)

  • Ludmil B. Alexandrov

    (University of California, San Diego)

  • Kevin M. Brown

    (National Cancer Institute, NIH, DHHS)

  • David C. Wedge

    (Big Data Institute
    Oxford NIHR Biomedical Research Centre
    Manchester Cancer Research Centre)

  • Stephen Chanock

    (National Cancer Institute, NIH, DHHS)

  • Vito Michele Fazio

    (University Campus Bio-Medico of Rome
    IRCCS H. “Casa Sollievo della Sofferenza”)

  • Michele Gallucci

    (“Regina Elena” National Cancer Institute)

  • Maria Teresa Landi

    (National Cancer Institute, NIH, DHHS)

Abstract

Intratumor heterogeneity (ITH) and tumor evolution have been well described for clear cell renal cell carcinomas (ccRCC), but they are less studied for other kidney cancer subtypes. Here we investigate ITH and clonal evolution of papillary renal cell carcinoma (pRCC) and rarer kidney cancer subtypes, integrating whole-genome sequencing and DNA methylation data. In 29 tumors, up to 10 samples from the center to the periphery of each tumor, and metastatic samples in 2 cases, enable phylogenetic analysis of spatial features of clonal expansion, which shows congruent patterns of genomic and epigenomic evolution. In contrast to previous studies of ccRCC, in pRCC, driver gene mutations and most arm-level somatic copy number alterations (SCNAs) are clonal. These findings suggest that a single biopsy would be sufficient to identify the important genetic drivers and that targeting large-scale SCNAs may improve pRCC treatment, which is currently poor. While type 1 pRCC displays near absence of structural variants (SVs), the more aggressive type 2 pRCC and the rarer subtypes have numerous SVs, which should be pursued for prognostic significance.

Suggested Citation

  • Bin Zhu & Maria Luana Poeta & Manuela Costantini & Tongwu Zhang & Jianxin Shi & Steno Sentinelli & Wei Zhao & Vincenzo Pompeo & Maurizio Cardelli & Boian S. Alexandrov & Burcak Otlu & Xing Hua & Krist, 2020. "The genomic and epigenomic evolutionary history of papillary renal cell carcinomas," Nature Communications, Nature, vol. 11(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-16546-5
    DOI: 10.1038/s41467-020-16546-5
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-020-16546-5
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-020-16546-5?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-16546-5. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.