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Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma

Author

Listed:
  • S. Manier

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School
    Hematology Department, CHU, Univ. Lille
    INSERM UMR-S1172)

  • J. Park

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School
    Brigham and Women’s Hospital)

  • M. Capelletti

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • M. Bustoros

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • S. S. Freeman

    (Cancer Program, Broad Institute of MIT and Harvard)

  • G. Ha

    (Cancer Program, Broad Institute of MIT and Harvard)

  • J. Rhoades

    (Cancer Program, Broad Institute of MIT and Harvard)

  • C. J. Liu

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • D. Huynh

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • S. C. Reed

    (Cancer Program, Broad Institute of MIT and Harvard)

  • G. Gydush

    (Cancer Program, Broad Institute of MIT and Harvard)

  • K. Z. Salem

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • D. Rotem

    (Cancer Program, Broad Institute of MIT and Harvard)

  • C. Freymond

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • A. Yosef

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • A. Perilla-Glen

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School)

  • L. Garderet

    (Department of Hematology, St-Antoine University Hospital)

  • E. M. Van Allen

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School
    Cancer Program, Broad Institute of MIT and Harvard)

  • S. Kumar

    (Department of Hematology, Mayo Clinic)

  • J. C. Love

    (Cancer Program, Broad Institute of MIT and Harvard)

  • G. Getz

    (Cancer Program, Broad Institute of MIT and Harvard)

  • V. A. Adalsteinsson

    (Cancer Program, Broad Institute of MIT and Harvard)

  • I. M. Ghobrial

    (Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School
    Brigham and Women’s Hospital
    Cancer Program, Broad Institute of MIT and Harvard)

Abstract

Liquid biopsies including circulating tumor cells (CTCs) and cell-free DNA (cfDNA) have enabled minimally invasive characterization of many cancers, but are rarely analyzed together. Understanding the detectability and genomic concordance of CTCs and cfDNA may inform their use in guiding cancer precision medicine. Here, we report the detectability of cfDNA and CTCs in blood samples from 107 and 56 patients with multiple myeloma (MM), respectively. Using ultra-low pass whole-genome sequencing, we find both tumor fractions correlate with disease progression. Applying whole-exome sequencing (WES) to cfDNA, CTCs, and matched tumor biopsies, we find concordance in clonal somatic mutations (~99%) and copy number alterations (~81%) between liquid and tumor biopsies. Importantly, analyzing CTCs and cfDNA together enables cross-validation of mutations, uncovers mutations exclusive to either CTCs or cfDNA, and allows blood-based tumor profiling in a greater fraction of patients. Our study demonstrates the utility of analyzing both CTCs and cfDNA in MM.

Suggested Citation

  • S. Manier & J. Park & M. Capelletti & M. Bustoros & S. S. Freeman & G. Ha & J. Rhoades & C. J. Liu & D. Huynh & S. C. Reed & G. Gydush & K. Z. Salem & D. Rotem & C. Freymond & A. Yosef & A. Perilla-Gl, 2018. "Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma," Nature Communications, Nature, vol. 9(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-04001-5
    DOI: 10.1038/s41467-018-04001-5
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    Cited by:

    1. Maximilian Merz & Almuth Maria Anni Merz & Jie Wang & Lei Wei & Qiang Hu & Nicholas Hutson & Cherie Rondeau & Kimberly Celotto & Ahmed Belal & Ronald Alberico & AnneMarie W. Block & Hemn Mohammadpour , 2022. "Deciphering spatial genomic heterogeneity at a single cell resolution in multiple myeloma," Nature Communications, Nature, vol. 13(1), pages 1-15, December.

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