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Representative Sequencing: Unbiased Sampling of Solid Tumor Tissue

Authors :
Richard Marais
Andrew Furness
Thomas B.K. Watkins
Maise Al-Bakir
Dionysis Papadatos-Pastos
Maryam Razaq
Mairead McKenzie
Lisa Pickering
Peter Ellery
Jonathan Ledermann
Andrew V. Biankin
Richard J. Gilbertson
Peter Cockcroft
Mary Mangwende
Sophie Ward
Mary Falzon
Cristina Naceur-Lombardelli
Carlos Caldas
Karla Pearce
Jacqui Shaw
Salma Kadiri
Lars Dyrskjøt
Mark Linch
Daniel Burgess
Nelson Alexander
Christian H. Ottensmeier
Kevin G. Blyth
Lisa L. Gallegos
Rodelaine Wilson
Hayley Bridger
Fiona H Blackhall
Peter J. Parker
Charles Swanton
Allan Hackshaw
Gert Attard
Gordon Stamp
Dean A. Fennell
Debra H. Josephs
Andrew P. Robinson
Kim Edmonds
Tina Mackay
Mita Afroza Akther
Miriam Mitchison
Sam M. Janes
Giorgia Trevisan
Adrienne M. Flanagan
Alison Cluroe
Henning Walczak
Stuart Horswell
Lena Karapagniotou
Simon Tavaré
Sarah Sarker
Teresa Marafioti
Matt Krebs
Anna Green
Philippe Lamy
Reena Khiroya
Samantha M. Hill
Andrew Tutt
Ashish Chandra
Selvaraju Veeriah
Faye Gishen
Lisa Thompson
Sarah Vaughan
Stacey Stanislaw
Kevin Litchfield
Colin Watts
Caroline Dive
Zayd Tippu
Ron Sinclair
Merche Jimenez-Linan
Lavinia Spain
Lizi Manzano
Zoe Rhodes
Caroline Stirling
Elena Provenzano
Andrew Rowan
Katey S. S. Enfield
Vasiliki Michalarea
Nahid Sheikh
Antonia Toncheva
Charlotte Ferris
James Spicer
Kai-Keen Shiu
Aida Murra
Gerald Langman
Scott Thomas Colville Shepherd
Nicholas McGranahan
Fabio Gomes
Daniel Hochhauser
Hang Xu
Sergio A. Quezada
James Larkin
Siow Ming Lee
Chi-wah Lok
Massimo Loda
Gary Middleton
Hollie Bancroft
Jo Dransfield
David Moore
Jennifer Thomas
Rebecca C. Fitzgerald
Peter Colloby
Annika Fendler
Emma Beddowes
Ultan McDermott
Christopher Abbosh
Uzma Asghar
Martin Forster
John Le Quesne
Katherine F. Leith
Paddy Stone
Bernard Olisemeke
Bruce Tanchel
Laura Farrelly
Grant D. Stewart
Justine Korteweg
Sanjay Jogai
Nnenna Kanu
Desiree Schnidrig
Heidi Rosenbaum
Elaine Borg
Mat Carter
Anthony J. Chalmers
Andrew C. Kidd
Alexandre Harlé
Ula Mahadeva
Crispin T. Hiley
Fiona Byrne
Heather Shaw
Mariam Jamal-Hanjani
Karin A. Oien
Ian Proctor
Joanne Webb
Sioban Fraser
Sarah Howlett
Ruby Stewart
Peter Van Loo
Nadia Yousaf
Tanya Ahmad
Martin Collard
Sanjay Popat
James D. Brenton
Sarah Rudman
Lewis Au
David G. Harrison
Elias Pintus
Patricia Roxburgh
Olivia Curtis
Ben Deakin
Ariana Huebner
Debra Enting
Simranpreet Summan
S. Baijal
Iver Nordentoft
Carol Jones
Haixi Yan
Sebastian Brandner
Tariq Enver
Lara-Rose Iredale
Yvonne Summers
Babu Naidu
Abby Sharp
Stephen Hazell
Aoune Barhoumi
Emma Nye
Robert E. Hynds
Sharmistha Ghosh
Emilia L. Lim
Ben Shum
Nikki Hunter
John Bridgewater
Eleanor Carlyle
Stephan Beck
Nicolai Juul Birkbak
Steve Hazell
Samra Turajlic
Amy Kerr
Ian Tomlinson
Adrian Tookman
Litchfield, Kevin [0000-0002-3725-0914]
Birkbak, Nicolai J [0000-0003-1613-9587]
Nordentoft, Iver [0000-0003-4856-4086]
Dyrskjøt, Lars [0000-0001-7061-9851]
Apollo - University of Cambridge Repository
Division of genetics and epidemiology
The institute of cancer research [London]
The Wellcome Trust Centre for Human Genetics [Oxford]
University of Oxford [Oxford]
Centre de Recherche en Automatique de Nancy (CRAN)
Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)
The Royal Marsden
University of Arizona
University of Western Ontario, Physic and Astronomy Department
University of Western Ontario (UWO)
Center for Biological Sequence Analysis [Lyngby]
Technical University of Denmark [Lyngby] (DTU)
Laboratoire d'Astrophysique de Marseille (LAM)
Aix Marseille Université (AMU)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)
Aarhus University Hospital
Cancer Research UK Lung Cancer Centre of Excellence [Londres, Royaume-Uni]
University College of London [London] (UCL)
Comprehensive Cancer Center
UCL Cancer Institute [University College London]
The Wellcome Trust Sanger Institute [Cambridge]
Research Department of Pathology
Innovation North - Faculty of Information and Technology
Leeds Metropolitan University
Department of histopathology
University College Hospital
Mammalian Genetics Laboratory
Centre for Research on Adaptive Nanostructures and Nanodevices
Trinity College Dublin
Cancer Research UK London Research Institute
Guy's and St Thomas' Hospital [London]
Breakthrough Breast Cancer Centre
London Institute of Cancer
Cancer Research UK Cambridge Research Institute and Department of Oncology, University of Cambridge
University of Cambridge [UK] (CAM)
Cancer Division [Sydney, Australia] (The Kinghorn Cancer Centre)
Garvan Institute of Medical Research [Sydney, Australia]
Clinical and Experimental Pharmacology Group
Paterson Institute for Cancer Research, University of Manchester
University of Leicester
Experimental Cancer Medicine Centre
University of Southampton-Faculty of Medicine
Moses, Wittemyer, Harrison and Woodruff, P.C.
University of Oxford
Danmarks Tekniske Universitet = Technical University of Denmark (DTU)
Garvan Institute of medical research
Source :
PEACE Consortium & Blackhall, F 2020, ' Representative Sequencing : Unbiased Sampling of Solid Tumor Tissue ', Cell Reports, vol. 31, no. 5, 107550, pp. 107550 . https://doi.org/10.1016/j.celrep.2020.107550, Cell Reports, Cell Reports, Elsevier Inc, 2020, 31 (5), pp.107550. ⟨10.1016/j.celrep.2020.107550⟩, Litchfield, K, Stanislaw, S, Spain, L, Gallegos, L L, Rowan, A, Schnidrig, D, Rosenbaum, H, Harle, A, Au, L, Hill, S M, Tippu, Z, Thomas, J, Thompson, L, Xu, H, Horswell, S, Barhoumi, A, Jones, C, Leith, K F, Burgess, D L, Watkins, T B K, Lim, E, Birkbak, N J, Lamy, P, Nordentoft, I, Dyrskjøt, L, Pickering, L, Hazell, S, Jamal-Hanjani, M, PEACE Consortium, Larkin, J, Swanton, C, Alexander, N & Turajlic, S 2020, ' Representative Sequencing : Unbiased Sampling of Solid Tumor Tissue ', Cell Reports, vol. 31, no. 5, 107550 . https://doi.org/10.1016/j.celrep.2020.107550, Cell Reports, Vol 31, Iss 5, Pp-(2020), Litchfield, K, Stanislaw, S, Spain, L, Gallegos, L L, Rowan, A, Schnidrig, D, Rosenbaum, H, Harle, A, Au, L, Hill, S M, Tippu, Z, Thomas, J, Thompson, L, Xu, H, Horswell, S, Barhoumi, A, Jones, C, Leith, K F, Burgess, D L, Watkins, T B K, Lim, E, Birkbak, N J, Lamy, P, Nordentoft, I, Dyrskjøt, L, Pickering, L, Hazell, S, Jamal-hanjani, M, Larkin, J, Swanton, C, Alexander, N, Turajlic, S, Abbosh, C, Shiu, K, Bridgewater, J, Hochhauser, D, Forster, M, Lee, S, Ahmad, T, Papadatos-pastos, D, Janes, S, Van Loo, P, Enfield, K, Mcgranahan, N, Huebner, A, Quezada, S, Beck, S, Parker, P, Walczak, H, Enver, T, Hynds, R, Falzon, M, Proctor, I, Sinclair, R, Lok, C, Rhodes, Z, Moore, D, Marafioti, T, Borg, E, Mitchison, M, Khiroya, R, Trevisan, G, Ellery, P, Linch, M, Brandner, S, Hiley, C, Veeriah, S, Razaq, M, Shaw, H, Attard, G, Akther, M A, Naceur-lombardelli, C, Manzano, L, Al-bakir, M, Summan, S, Kanu, N, Ward, S, Asghar, U, Lim, E, Gishen, F, Tookman, A, Stone, P, Stirling, C, Furness, A, Edmonds, K, Hunter, N, Sarker, S, Vaughan, S, Mangwende, M, Pearce, K, Spain, L, Shepherd, S, Yan, H, Shum, B, Carlyle, E, Hazell, S, Fendler, A, Byrne, F, Yousaf, N, Popat, S, Curtis, O, Stamp, G, Toncheva, A, Nye, E, Murra, A, Korteweg, J, Sheikh, N, Josephs, D, Chandra, A, Spicer, J, Mahadeva, U, Green, A, Stewart, R, Iredale, L, Mackay, T, Deakin, B, Enting, D, Rudman, S, Ghosh, S, Karapagniotou, L, Pintus, E, Tutt, A, Howlett, S, Michalarea, V, Brenton, J, Caldas, C, Fitzgerald, R, Jimenez-linan, M, Provenzano, E, Cluroe, A, Stewart, G, Watts, C, Gilbertson, R, Mcdermott, U, Tavare, S, Beddowes, E, Roxburgh, P, Biankin, A, Chalmers, A, Fraser, S, Oien, K, Kidd, A, Blyth, K, Krebs, M, Blackhall, F, Summers, Y, Dive, C, Marais, R, Gomes, F, Carter, M, Dransfield, J, Le Quesne, J, Fennell, D, Shaw, J, Naidu, B, Baijal, S, Tanchel, B, Langman, G, Robinson, A, Collard, M, Cockcroft, P, Ferris, C, Bancroft, H, Kerr, A, Middleton, G, Webb, J, Kadiri, S, Colloby, P, Olisemeke, B, Wilson, R, Tomlinson, I, Jogai, S, Ottensmeier, C, Harrison, D, Loda, M, Flanagan, A, Mckenzie, M, Hackshaw, A, Ledermann, J, Sharp, A, Farrelly, L & Bridger, H 2020, ' Representative Sequencing: Unbiased Sampling of Solid Tumor Tissue ', Cell Reports, vol. 31, no. 5, pp. 107550 . https://doi.org/10.1016/j.celrep.2020.107550, CELL REPORTS, Cell Reports, 2020, 31 (5), pp.107550. ⟨10.1016/j.celrep.2020.107550⟩
Publication Year :
2020
Publisher :
Elsevier BV, 2020.

Abstract

International audience; Although thousands of solid tumors have been sequenced to date, a fundamental under-sampling bias isinherent in current methodologies. This is caused by a tissue sample input of fixed dimensions (e.g., 6 mmbiopsy), which becomes grossly under-powered as tumor volume scales. Here, we demonstrate representative sequencing (Rep-Seq) as a new method to achieve unbiased tumor tissue sampling. Rep-Seq uses fixed residual tumor material, which is homogenized and subjected to next-generation sequencing. Analysis of intratumor tumor mutation burden (TMB) variability shows a high level of misclassification using current single-biopsy methods, with 20% of lung and 52% of bladder tumors having at least one biopsy with high TMB butlow clonal TMB overall. Misclassification rates by contrast are reduced to 2% (lung) and 4% (bladder) when a more representative sampling methodology is used. Rep-Seq offers an improved sampling protocol for tumor profiling, with significant potential for improved clinical utility and more accurate deconvolution of clonal structure.

Details

ISSN :
22111247
Database :
OpenAIRE
Journal :
PEACE Consortium & Blackhall, F 2020, ' Representative Sequencing : Unbiased Sampling of Solid Tumor Tissue ', Cell Reports, vol. 31, no. 5, 107550, pp. 107550 . https://doi.org/10.1016/j.celrep.2020.107550, Cell Reports, Cell Reports, Elsevier Inc, 2020, 31 (5), pp.107550. ⟨10.1016/j.celrep.2020.107550⟩, Litchfield, K, Stanislaw, S, Spain, L, Gallegos, L L, Rowan, A, Schnidrig, D, Rosenbaum, H, Harle, A, Au, L, Hill, S M, Tippu, Z, Thomas, J, Thompson, L, Xu, H, Horswell, S, Barhoumi, A, Jones, C, Leith, K F, Burgess, D L, Watkins, T B K, Lim, E, Birkbak, N J, Lamy, P, Nordentoft, I, Dyrskjøt, L, Pickering, L, Hazell, S, Jamal-Hanjani, M, PEACE Consortium, Larkin, J, Swanton, C, Alexander, N & Turajlic, S 2020, ' Representative Sequencing : Unbiased Sampling of Solid Tumor Tissue ', Cell Reports, vol. 31, no. 5, 107550 . https://doi.org/10.1016/j.celrep.2020.107550, Cell Reports, Vol 31, Iss 5, Pp-(2020), Litchfield, K, Stanislaw, S, Spain, L, Gallegos, L L, Rowan, A, Schnidrig, D, Rosenbaum, H, Harle, A, Au, L, Hill, S M, Tippu, Z, Thomas, J, Thompson, L, Xu, H, Horswell, S, Barhoumi, A, Jones, C, Leith, K F, Burgess, D L, Watkins, T B K, Lim, E, Birkbak, N J, Lamy, P, Nordentoft, I, Dyrskjøt, L, Pickering, L, Hazell, S, Jamal-hanjani, M, Larkin, J, Swanton, C, Alexander, N, Turajlic, S, Abbosh, C, Shiu, K, Bridgewater, J, Hochhauser, D, Forster, M, Lee, S, Ahmad, T, Papadatos-pastos, D, Janes, S, Van Loo, P, Enfield, K, Mcgranahan, N, Huebner, A, Quezada, S, Beck, S, Parker, P, Walczak, H, Enver, T, Hynds, R, Falzon, M, Proctor, I, Sinclair, R, Lok, C, Rhodes, Z, Moore, D, Marafioti, T, Borg, E, Mitchison, M, Khiroya, R, Trevisan, G, Ellery, P, Linch, M, Brandner, S, Hiley, C, Veeriah, S, Razaq, M, Shaw, H, Attard, G, Akther, M A, Naceur-lombardelli, C, Manzano, L, Al-bakir, M, Summan, S, Kanu, N, Ward, S, Asghar, U, Lim, E, Gishen, F, Tookman, A, Stone, P, Stirling, C, Furness, A, Edmonds, K, Hunter, N, Sarker, S, Vaughan, S, Mangwende, M, Pearce, K, Spain, L, Shepherd, S, Yan, H, Shum, B, Carlyle, E, Hazell, S, Fendler, A, Byrne, F, Yousaf, N, Popat, S, Curtis, O, Stamp, G, Toncheva, A, Nye, E, Murra, A, Korteweg, J, Sheikh, N, Josephs, D, Chandra, A, Spicer, J, Mahadeva, U, Green, A, Stewart, R, Iredale, L, Mackay, T, Deakin, B, Enting, D, Rudman, S, Ghosh, S, Karapagniotou, L, Pintus, E, Tutt, A, Howlett, S, Michalarea, V, Brenton, J, Caldas, C, Fitzgerald, R, Jimenez-linan, M, Provenzano, E, Cluroe, A, Stewart, G, Watts, C, Gilbertson, R, Mcdermott, U, Tavare, S, Beddowes, E, Roxburgh, P, Biankin, A, Chalmers, A, Fraser, S, Oien, K, Kidd, A, Blyth, K, Krebs, M, Blackhall, F, Summers, Y, Dive, C, Marais, R, Gomes, F, Carter, M, Dransfield, J, Le Quesne, J, Fennell, D, Shaw, J, Naidu, B, Baijal, S, Tanchel, B, Langman, G, Robinson, A, Collard, M, Cockcroft, P, Ferris, C, Bancroft, H, Kerr, A, Middleton, G, Webb, J, Kadiri, S, Colloby, P, Olisemeke, B, Wilson, R, Tomlinson, I, Jogai, S, Ottensmeier, C, Harrison, D, Loda, M, Flanagan, A, Mckenzie, M, Hackshaw, A, Ledermann, J, Sharp, A, Farrelly, L & Bridger, H 2020, ' Representative Sequencing: Unbiased Sampling of Solid Tumor Tissue ', Cell Reports, vol. 31, no. 5, pp. 107550 . https://doi.org/10.1016/j.celrep.2020.107550, CELL REPORTS, Cell Reports, 2020, 31 (5), pp.107550. ⟨10.1016/j.celrep.2020.107550⟩
Accession number :
edsair.doi.dedup.....40f254410047db4d0807701fbc62a8f6
Full Text :
https://doi.org/10.1016/j.celrep.2020.107550