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Integrative genomic study of Chinese clear cell renal cell carcinoma reveals features associated with thrombus

Author

Listed:
  • Xiang-Ming Wang

    (Peking University)

  • Yang Lu

    (National Clinical Research Center for Kidney Diseases)

  • Yi-Meng Song

    (Peking University)

  • Jun Dong

    (National Clinical Research Center for Kidney Diseases
    Chinese PLA General Hospital)

  • Ruo-Yan Li

    (Peking University)

  • Guo-Liang Wang

    (Peking University)

  • Xu Wang

    (National Clinical Research Center for Kidney Diseases)

  • Shu-Dong Zhang

    (Peking University)

  • Zhou-Huan Dong

    (National Clinical Research Center for Kidney Diseases)

  • Min Lu

    (Peking University
    Peking University Third Hospital, School of Basic Medical Sciences, Peking University Health Science Center)

  • Shi-Yu Wang

    (National Clinical Research Center for Kidney Diseases)

  • Li-Yuan Ge

    (Peking University)

  • Guang-Da Luo

    (National Clinical Research Center for Kidney Diseases
    Chinese PLA General Hospital)

  • Run-Zhuo Ma

    (Peking University)

  • Steve George Rozen

    (Duke-NUS Medical School)

  • Fan Bai

    (Peking University)

  • Di Wu

    (National Clinical Research Center for Kidney Diseases)

  • Lu-Lin Ma

    (Peking University)

Abstract

Clear cell renal cell carcinoma (ccRCC) is a heterogeneous disease with features that vary by ethnicity. A systematic characterization of the genomic landscape of Chinese ccRCC is lacking, and features of ccRCC associated with tumor thrombus (ccRCC-TT) remain poorly understood. Here, we applied whole-exome sequencing on 110 normal-tumor pairs and 42 normal-tumor-thrombus triples, and transcriptome sequencing on 61 tumor-normal pairs and 30 primary-thrombus pairs from 152 Chinese patients with ccRCC. Our analysis reveals that a mutational signature associated with aristolochic acid (AA) exposure is widespread in Chinese ccRCC. Tumors from patients with ccRCC-TT show a higher mutational burden and genomic instability; in addition, mutations in BAP1 and SETD2 are highly enriched in patients with ccRCC-TT. Moreover, patients with/without TT show distinct molecular characteristics. We reported the integrative genomic sequencing of Chinese ccRCC and identified the features associated with tumor thrombus, which may facilitate ccRCC diagnosis, prognosis and treatment.

Suggested Citation

  • Xiang-Ming Wang & Yang Lu & Yi-Meng Song & Jun Dong & Ruo-Yan Li & Guo-Liang Wang & Xu Wang & Shu-Dong Zhang & Zhou-Huan Dong & Min Lu & Shi-Yu Wang & Li-Yuan Ge & Guang-Da Luo & Run-Zhuo Ma & Steve G, 2020. "Integrative genomic study of Chinese clear cell renal cell carcinoma reveals features associated with thrombus," Nature Communications, Nature, vol. 11(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-14601-9
    DOI: 10.1038/s41467-020-14601-9
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    Cited by:

    1. Hailiang Zhang & Lin Bai & Xin-Qiang Wu & Xi Tian & Jinwen Feng & Xiaohui Wu & Guo-Hai Shi & Xiaoru Pei & Jiacheng Lyu & Guojian Yang & Yang Liu & Wenhao Xu & Aihetaimujiang Anwaier & Yu Zhu & Da-Long, 2023. "Proteogenomics of clear cell renal cell carcinoma response to tyrosine kinase inhibitor," Nature Communications, Nature, vol. 14(1), pages 1-21, December.
    2. Yuanyuan Qu & Jinwen Feng & Xiaohui Wu & Lin Bai & Wenhao Xu & Lingli Zhu & Yang Liu & Fujiang Xu & Xuan Zhang & Guojian Yang & Jiacheng Lv & Xiuping Chen & Guo-Hai Shi & Hong-Kai Wang & Da-Long Cao &, 2022. "A proteogenomic analysis of clear cell renal cell carcinoma in a Chinese population," Nature Communications, Nature, vol. 13(1), pages 1-21, December.
    3. Yuanyuan Qu & Xiaohui Wu & Aihetaimujiang Anwaier & Jinwen Feng & Wenhao Xu & Xiaoru Pei & Yu Zhu & Yang Liu & Lin Bai & Guojian Yang & Xi Tian & Jiaqi Su & Guo-Hai Shi & Da-Long Cao & Fujiang Xu & Yu, 2022. "Proteogenomic characterization of MiT family translocation renal cell carcinoma," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    4. Akihiko Fukagawa & Natsuko Hama & Yasushi Totoki & Hiromi Nakamura & Yasuhito Arai & Mihoko Saito-Adachi & Akiko Maeshima & Yoshiyuki Matsui & Shinichi Yachida & Tetsuo Ushiku & Tatsuhiro Shibata, 2023. "Genomic and epigenomic integrative subtypes of renal cell carcinoma in a Japanese cohort," Nature Communications, Nature, vol. 14(1), pages 1-15, December.

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