Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer

Muhammed Murtaza, Sarah-Jane Dawson, Katherine Pogrebniak, Oscar M. Rueda, Elena Provenzano, John Grant, Suet-Feung Chin, Dana W. Y. Tsui, Francesco Marass, Davina Gale, H. Raza Ali, Pankti Shah, Tania Contente-Cuomo, Hossein Farahani, Karey Shumansky, Zoya Kingsbury, Sean Humphray, David Bentley, Sohrab P. Shah, Matthew Wallis, Nitzan Rosenfeld () and Carlos Caldas ()
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Muhammed Murtaza: Cancer Research UK Cambridge Institute, University of Cambridge
Sarah-Jane Dawson: Cancer Research UK Cambridge Institute, University of Cambridge
Katherine Pogrebniak: Cancer Research UK Cambridge Institute, University of Cambridge
Oscar M. Rueda: Cancer Research UK Cambridge Institute, University of Cambridge
Elena Provenzano: Cambridge Breast Unit, Addenbrooke’s Hospital, Cambridge University Hospital National Health Service Foundation Trust and National Institute for Health Research Cambridge Biomedical Research Centre, and the Cambridge Experimental Cancer Medicine Centre
John Grant: Addenbrooke’s Hospital, Cambridge University Hospital NHS Foundation Trust
Suet-Feung Chin: Cancer Research UK Cambridge Institute, University of Cambridge
Dana W. Y. Tsui: Cancer Research UK Cambridge Institute, University of Cambridge
Francesco Marass: Cancer Research UK Cambridge Institute, University of Cambridge
Davina Gale: Cancer Research UK Cambridge Institute, University of Cambridge
H. Raza Ali: Cancer Research UK Cambridge Institute, University of Cambridge
Pankti Shah: Center for Noninvasive Diagnostics, Translational Genomics Research Institute
Tania Contente-Cuomo: Center for Noninvasive Diagnostics, Translational Genomics Research Institute
Hossein Farahani: BC Cancer Research Centre
Karey Shumansky: BC Cancer Research Centre
Zoya Kingsbury: Illumina, Inc., Chesterford Research Park
Sean Humphray: Illumina, Inc., Chesterford Research Park
David Bentley: Illumina, Inc., Chesterford Research Park
Sohrab P. Shah: BC Cancer Research Centre
Matthew Wallis: Cambridge Breast Unit, Addenbrooke’s Hospital, Cambridge University Hospital National Health Service Foundation Trust and National Institute for Health Research Cambridge Biomedical Research Centre, and the Cambridge Experimental Cancer Medicine Centre
Nitzan Rosenfeld: Cancer Research UK Cambridge Institute, University of Cambridge
Carlos Caldas: Cancer Research UK Cambridge Institute, University of Cambridge

Nature Communications, 2015, vol. 6, issue 1, 1-6

Abstract: Abstract Circulating tumour DNA analysis can be used to track tumour burden and analyse cancer genomes non-invasively but the extent to which it represents metastatic heterogeneity is unknown. Here we follow a patient with metastatic ER-positive and HER2-positive breast cancer receiving two lines of targeted therapy over 3 years. We characterize genomic architecture and infer clonal evolution in eight tumour biopsies and nine plasma samples collected over 1,193 days of clinical follow-up using exome and targeted amplicon sequencing. Mutation levels in the plasma samples reflect the clonal hierarchy inferred from sequencing of tumour biopsies. Serial changes in circulating levels of sub-clonal private mutations correlate with different treatment responses between metastatic sites. This comparison of biopsy and plasma samples in a single patient with metastatic breast cancer shows that circulating tumour DNA can allow real-time sampling of multifocal clonal evolution.

Date: 2015
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DOI: 10.1038/ncomms9760

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