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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma

Author

Listed:
  • Mrinal M. Gounder

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Narasimhan P. Agaram

    (Memorial Sloan Kettering Cancer Center)

  • Sally E. Trabucco

    (Foundation Medicine, Inc.)

  • Victoria Robinson

    (Memorial Sloan Kettering Cancer Center)

  • Richard A. Ferraro

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Sherri Z. Millis

    (Foundation Medicine, Inc.)

  • Anita Krishnan

    (Memorial Sloan Kettering Cancer Center)

  • Jessica Lee

    (Foundation Medicine, Inc.)

  • Steven Attia

    (Mayo Clinic)

  • Wassim Abida

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Alexander Drilon

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Ping Chi

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Sandra P. D’ Angelo

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Mark A. Dickson

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Mary Lou Keohan

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Ciara M. Kelly

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Mark Agulnik

    (City of Hope)

  • Sant P. Chawla

    (Sarcoma Center of Santa Monica)

  • Edwin Choy

    (Massachusetts General Hospital
    Harvard Medical School)

  • Rashmi Chugh

    (University of Michigan)

  • Christian F. Meyer

    (Johns Hopkins Sidney Kimmel Comprehensive Center)

  • Parvathi A. Myer

    (Albert Einstein College of Medicine)

  • Jessica L. Moore

    (Memorial Sloan Kettering Cancer Center)

  • Ross A. Okimoto

    (University of California at San Francisco)

  • Raphael E. Pollock

    (Ohio State University)

  • Vinod Ravi

    (The University of Texas MD Anderson Cancer Center)

  • Arun S. Singh

    (University of California at Los Angeles)

  • Neeta Somaiah

    (The University of Texas MD Anderson Cancer Center)

  • Andrew J. Wagner

    (Harvard Medical School
    Dana-Farber Cancer Institute)

  • John H. Healey

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Garrett M. Frampton

    (Foundation Medicine, Inc.)

  • Jeffrey M. Venstrom

    (Foundation Medicine, Inc.)

  • Jeffrey S. Ross

    (Foundation Medicine, Inc.
    Albany Medical College)

  • Marc Ladanyi

    (Memorial Sloan Kettering Cancer Center)

  • Samuel Singer

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Murray F. Brennan

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Gary K. Schwartz

    (Columbia University)

  • Alexander J. Lazar

    (Ohio State University)

  • David M. Thomas

    (Garvan Institute of Medical Research)

  • Robert G. Maki

    (University of Pennsylvania)

  • William D. Tap

    (Memorial Sloan Kettering Cancer Center
    Weill Cornell Medical College)

  • Siraj M. Ali

    (Foundation Medicine, Inc.)

  • Dexter X. Jin

    (Foundation Medicine, Inc.)

Abstract

There are more than 70 distinct sarcomas, and this diversity complicates the development of precision-based therapeutics for these cancers. Prospective comprehensive genomic profiling could overcome this challenge by providing insight into sarcomas’ molecular drivers. Through targeted panel sequencing of 7494 sarcomas representing 44 histologies, we identify highly recurrent and type-specific alterations that aid in diagnosis and treatment decisions. Sequencing could lead to refinement or reassignment of 10.5% of diagnoses. Nearly one-third of patients (31.7%) harbor potentially actionable alterations, including a significant proportion (2.6%) with kinase gene rearrangements; 3.9% have a tumor mutational burden ≥10 mut/Mb. We describe low frequencies of microsatellite instability (

Suggested Citation

  • Mrinal M. Gounder & Narasimhan P. Agaram & Sally E. Trabucco & Victoria Robinson & Richard A. Ferraro & Sherri Z. Millis & Anita Krishnan & Jessica Lee & Steven Attia & Wassim Abida & Alexander Drilon, 2022. "Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-30496-0
    DOI: 10.1038/s41467-022-30496-0
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    References listed on IDEAS

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