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Peer-Reviewed Publication
Nat Commun2023;14(1):6895.October 28, 2023Journal Article

Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing.

Ryan N Ptashkin1,2, Mark D Ewalt3, Gowtham Jayakumaran1,4, Iwona Kiecka1, Anita S Bowman1, JinJuan Yao1, Jacklyn Casanova1, Yun-Te David Lin1, Kseniya Petrova-Drus1, Abhinita S Mohanty1, Ruben Bacares1, Jamal Benhamida1, Satshil Rana1, Anna Razumova1, Chad Vanderbilt1, Anoop Balakrishnan Rema1, Ivelise Rijo1, Julie Son-Garcia1, Ino de Bruijn5, Menglei Zhu1, Sean Lachhander1, Wei Wang1, Mohammad S Haque1, Venkatraman E Seshan6, Jiajing Wang1, Ying Liu1, Khedoudja Nafa1, Laetitia Borsu1, Yanming Zhang1, Umut Aypar1, Sarah P Suehnholz5, Debyani Chakravarty1, Jae H Park7, Omar Abdel-Wahab5,7, Anthony R Mato7, Wenbin Xiao1, Mikhail Roshal1, Mariko Yabe1, Connie Lee Batlevi7, Sergio Giralt7, Gilles Salles7, Raajit Rampal1, Martin Tallman7,8, Eytan M Stein7, Anas Younes7,9, Ross L Levine5,7, Miguel-Angel Perales7,10, Marcel R M van den Brink5,7, Ahmet Dogan1, Marc Ladanyi1, Michael F Berger1,5, A Rose Brannon1, Ryma Benayed1,9, Ahmet Zehir11,12, Maria E Arcila13
1Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
2C2i Genomics, New York, NY, USA.
3Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. ewaltm@mskcc.org.
4Guardant Health, Palo Alto, CA, USA.
5Human Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
6Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
7Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
8Lurie Comprehensive Cancer Center, Northwestern University, Chicago, IL, USA.
9Oncology R&D, AstraZeneca, New York, NY, USA.
10Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
11Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. ahmet.zehir@astrazeneca.com.
12Oncology R&D, AstraZeneca, New York, NY, USA. ahmet.zehir@astrazeneca.com.
13Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. arcilam@mskcc.org.
PubMed PMC DOI PDF

Abstract

Genomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported development of prognostic models that inform disease management in the clinic. Tumor only sequencing assays are limited in their ability to identify definitive somatic variants, which can lead to ambiguity in clinical reporting and patient management. Here…

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