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

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, Ping Chi, Sandra P. D’ Angelo, Mark A. Dickson, Mary Lou Keohan, Ciara M. Kelly, Mark Agulnik, Sant P. Chawla, Edwin Choy, Rashmi Chugh, Christian F. Meyer, Parvathi A. Myer, Jessica L. Moore, Ross A. Okimoto, Raphael E. Pollock, Vinod Ravi, Arun S. Singh, Neeta Somaiah, Andrew J. Wagner, John H. Healey, Garrett M. Frampton, Jeffrey M. Venstrom, Jeffrey S. Ross, Marc Ladanyi, Samuel Singer, Murray F. Brennan, Gary K. Schwartz, Alexander J. Lazar, David M. Thomas, Robert G. Maki, William D. Tap, Siraj M. Ali and Dexter X. Jin
Additional contact information
Mrinal M. Gounder: Memorial Sloan Kettering Cancer Center
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
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
Alexander Drilon: Memorial Sloan Kettering Cancer Center
Ping Chi: Memorial Sloan Kettering Cancer Center
Sandra P. D’ Angelo: Memorial Sloan Kettering Cancer Center
Mark A. Dickson: Memorial Sloan Kettering Cancer Center
Mary Lou Keohan: Memorial Sloan Kettering Cancer Center
Ciara M. Kelly: Memorial Sloan Kettering Cancer Center
Mark Agulnik: City of Hope
Sant P. Chawla: Sarcoma Center of Santa Monica
Edwin Choy: Massachusetts General Hospital
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
John H. Healey: Memorial Sloan Kettering Cancer Center
Garrett M. Frampton: Foundation Medicine, Inc.
Jeffrey M. Venstrom: Foundation Medicine, Inc.
Jeffrey S. Ross: Foundation Medicine, Inc.
Marc Ladanyi: Memorial Sloan Kettering Cancer Center
Samuel Singer: Memorial Sloan Kettering Cancer Center
Murray F. Brennan: Memorial Sloan Kettering Cancer Center
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
Siraj M. Ali: Foundation Medicine, Inc.
Dexter X. Jin: Foundation Medicine, Inc.

Nature Communications, 2022, vol. 13, issue 1, 1-15

Abstract: 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 (

Date: 2022
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DOI: 10.1038/s41467-022-30496-0

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