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The genomic and epigenomic evolutionary history of papillary renal cell carcinomas

  1. Author:
    Zhu, Bin
    Poeta, Maria Luana [ORCID]
    Costantini, Manuela
    Zhang, Tongwu [ORCID]
    Shi, Jianxin
    Sentinelli, Steno
    Zhao, Wei [ORCID]
    Pompeo, Vincenzo
    Cardelli, Maurizio [ORCID]
    Alexandrov, Boian S [ORCID]
    Otlu, Burcak [ORCID]
    Hua, Xing
    Jones,Kristine
    Brodie,Seth [ORCID]
    Dabrowska, Malgorzata Ewa
    Toro, Jorge R
    Yeager,Meredith
    Wang,Mingyi [ORCID]
    Hicks,Belynda [ORCID]
    Alexandrov, Ludmil B [ORCID]
    Brown, Kevin M [ORCID]
    Wedge, David C
    Chanock, Stephen [ORCID]
    Fazio, Vito Michele
    Gallucci, Michele
    Landi, Maria Teresa [ORCID]

  2. Author Address

    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, 20892, USA., Department of Bioscience, Biotechnology and Biopharmaceutics, University of Bari, 70126, Bari, Italy., Department of Urology, "Regina Elena" National Cancer Institute, 00144, Rome, Italy., Department of Pathology, "Regina Elena" National Cancer Institute, 00144, Rome, Italy., Advanced Technology Center for Aging Research, IRCCS INRCA, 60121, Ancona, Italy., Theoretical Division, Los Alamos National Laboratory, Los Alamos, NM, 87545, USA., Department of Cellular and Molecular Medicine and Department of Bioengineering and Moores Cancer Center, University of California, San Diego, La Jolla, CA, 92093, USA., Cancer Genomics Research Laboratory (CGR), Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico of Rome, 00128, Rome, Italy., Washington, DC Veteran Affairs Medical Center, Washington, DC, 20422, USA., Big Data Institute, Old Road Campus, Oxford, OX3 7LF, UK. david.wedge@manchester.ac.uk., Oxford NIHR Biomedical Research Centre, Oxford, OX4 2PG, UK. david.wedge@manchester.ac.uk., Manchester Cancer Research Centre, Manchester, M20 4GJ, UK. david.wedge@manchester.ac.uk., Laboratory of Oncology, IRCCS H. "Casa Sollievo della Sofferenza", 71013, San Giovanni Rotondo, FG, Italy., Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, 20892, USA. landim@mail.nih.gov.,
    1. Year: 2020
    2. Date: Jun 18
    3. Epub Date: 2020 06 18
  2. Journal: Nature communications
    1. 11
    2. 1
    3. Pages: 3096
  4. Type of Article: Article
  5. Article Number: 3096
  6. ISSN: 2041-1723
  1. 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. Many tumours are heterogenous, which calls into question whether multiple biopsies are required to accurately assess the cancer. Here, the authors show that papillary renal cell carcinoma is clonal in nature, suggesting that in this cancer one biopsy is sufficient for diagnosis and molecular analyses.

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External Sources

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  2. DOI: 10.1038/s41467-020-16546-5
  3. PMID: 32555180
  4. View record in Web of Science®
  5. WOS: 000544044600003
  6. PII : 10.1038/s41467-020-16546-5

Library Notes

  1. Fiscal Year: FY2019-2020
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