Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment.


Journal

Nature medicine
ISSN: 1546-170X
Titre abrégé: Nat Med
Pays: United States
ID NLM: 9502015

Informations de publication

Date de publication:
14 Jun 2024
Historique:
received: 21 12 2023
accepted: 30 04 2024
medline: 15 6 2024
pubmed: 15 6 2024
entrez: 14 6 2024
Statut: aheadofprint

Résumé

In solid tumor oncology, circulating tumor DNA (ctDNA) is poised to transform care through accurate assessment of minimal residual disease (MRD) and therapeutic response monitoring. To overcome the sparsity of ctDNA fragments in low tumor fraction (TF) settings and increase MRD sensitivity, we previously leveraged genome-wide mutational integration through plasma whole-genome sequencing (WGS). Here we now introduce MRD-EDGE, a machine-learning-guided WGS ctDNA single-nucleotide variant (SNV) and copy-number variant (CNV) detection platform designed to increase signal enrichment. MRD-EDGE

Identifiants

pubmed: 38877116
doi: 10.1038/s41591-024-03040-4
pii: 10.1038/s41591-024-03040-4
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)
ID : CA263301-01A1
Organisme : Melanoma Research Alliance (MRA)
ID : 1039927

Informations de copyright

© 2024. The Author(s), under exclusive licence to Springer Nature America, Inc.

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Auteurs

Adam J Widman (AJ)

New York Genome Center, New York, NY, USA. widmana@mskcc.org.
Memorial Sloan Kettering Cancer Center, New York, NY, USA. widmana@mskcc.org.

Minita Shah (M)

New York Genome Center, New York, NY, USA.

Amanda Frydendahl (A)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Daniel Halmos (D)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Cole C Khamnei (CC)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Nadia Øgaard (N)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Srinivas Rajagopalan (S)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Anushri Arora (A)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Aditya Deshpande (A)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

William F Hooper (WF)

New York Genome Center, New York, NY, USA.

Jean Quentin (J)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Jake Bass (J)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Mingxuan Zhang (M)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Theophile Langanay (T)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Laura Andersen (L)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Zoe Steinsnyder (Z)

New York Genome Center, New York, NY, USA.

Will Liao (W)

New York Genome Center, New York, NY, USA.

Mads Heilskov Rasmussen (MH)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Tenna Vesterman Henriksen (TV)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Sarah Østrup Jensen (SØ)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Jesper Nors (J)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Christina Therkildsen (C)

Gastro Unit, Copenhagen University Hospital, Amager - Hvidovre Hospital, Hvidovre, Denmark.

Jesus Sotelo (J)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Ryan Brand (R)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Joshua S Schiffman (JS)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Ronak H Shah (RH)

Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Alexandre Pellan Cheng (AP)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Colleen Maher (C)

Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Parker Institute for Cancer Immunotherapy, San Francisco, CA, USA.

Lavinia Spain (L)

Cancer Dynamics Laboratory, The Francis Crick Institute, London, UK.
Renal and Skin Unit, The Royal Marsden NHS Foundation Trust, London, UK.

Kate Krause (K)

Mass General Cancer Center, Massachusetts General Hospital, Boston, MA, USA.

Dennie T Frederick (DT)

Mass General Cancer Center, Massachusetts General Hospital, Boston, MA, USA.

Wendie den Brok (W)

Department of Medical Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Caroline Lohrisch (C)

Department of Medical Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Tamara Shenkier (T)

Department of Medical Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Christine Simmons (C)

Department of Medical Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Diego Villa (D)

Department of Medical Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Andrew J Mungall (AJ)

Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada.

Richard Moore (R)

Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada.

Elena Zaikova (E)

Department of Molecular Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Viviana Cerda (V)

Department of Molecular Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Esther Kong (E)

Department of Molecular Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Daniel Lai (D)

Department of Molecular Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Murtaza S Malbari (MS)

Weill Cornell Medicine, New York, NY, USA.

Melissa Marton (M)

New York Genome Center, New York, NY, USA.

Dina Manaa (D)

New York Genome Center, New York, NY, USA.

Lara Winterkorn (L)

New York Genome Center, New York, NY, USA.

Karen Gelmon (K)

Department of Medical Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.

Margaret K Callahan (MK)

Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Genevieve Boland (G)

Mass General Cancer Center, Massachusetts General Hospital, Boston, MA, USA.

Catherine Potenski (C)

New York Genome Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Jedd D Wolchok (JD)

Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Ashish Saxena (A)

Weill Cornell Medicine, New York, NY, USA.

Samra Turajlic (S)

Cancer Dynamics Laboratory, The Francis Crick Institute, London, UK.
Renal and Skin Unit, The Royal Marsden NHS Foundation Trust, London, UK.

Marcin Imielinski (M)

New York Genome Center, New York, NY, USA.
Perlmutter Cancer Center, NYU Grossman School of Medicine, New York, NY, USA.

Michael F Berger (MF)

Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Sam Aparicio (S)

Department of Molecular Oncology, BC Cancer Agency, Vancouver, British Columbia, Canada.
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Nasser K Altorki (NK)

Weill Cornell Medicine, New York, NY, USA.

Michael A Postow (MA)

Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.

Nicolas Robine (N)

New York Genome Center, New York, NY, USA.

Claus Lindbjerg Andersen (CL)

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Dan A Landau (DA)

New York Genome Center, New York, NY, USA. dlandau@nygenome.org.
Weill Cornell Medicine, New York, NY, USA. dlandau@nygenome.org.

Classifications MeSH