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Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma

BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) remain a substantial burden to global health. Cell-free circulating tumour DNA (ctDNA) is an emerging biomarker but has not been studied sufficiently in HNSCC. METHODS: We conducted a single-centre prospective cohort study to investigate ctDN...

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Autores principales: Flach, Susanne, Howarth, Karen, Hackinger, Sophie, Pipinikas, Christodoulos, Ellis, Pete, McLay, Kirsten, Marsico, Giovanni, Forshew, Tim, Walz, Christoph, Reichel, Christoph A., Gires, Olivier, Canis, Martin, Baumeister, Philipp
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023460/
https://www.ncbi.nlm.nih.gov/pubmed/35132238
http://dx.doi.org/10.1038/s41416-022-01716-7
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author Flach, Susanne
Howarth, Karen
Hackinger, Sophie
Pipinikas, Christodoulos
Ellis, Pete
McLay, Kirsten
Marsico, Giovanni
Forshew, Tim
Walz, Christoph
Reichel, Christoph A.
Gires, Olivier
Canis, Martin
Baumeister, Philipp
author_facet Flach, Susanne
Howarth, Karen
Hackinger, Sophie
Pipinikas, Christodoulos
Ellis, Pete
McLay, Kirsten
Marsico, Giovanni
Forshew, Tim
Walz, Christoph
Reichel, Christoph A.
Gires, Olivier
Canis, Martin
Baumeister, Philipp
author_sort Flach, Susanne
collection PubMed
description BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) remain a substantial burden to global health. Cell-free circulating tumour DNA (ctDNA) is an emerging biomarker but has not been studied sufficiently in HNSCC. METHODS: We conducted a single-centre prospective cohort study to investigate ctDNA in patients with p16-negative HNSCC who received curative-intent primary surgical treatment. Whole-exome sequencing was performed on formalin-fixed paraffin-embedded (FFPE) tumour tissue. We utilised RaDaR(TM), a highly sensitive personalised assay using deep sequencing for tumour-specific variants, to analyse serial pre- and post-operative plasma samples for evidence of minimal residual disease and recurrence. RESULTS: In 17 patients analysed, personalised panels were designed to detect 34 to 52 somatic variants. Data show ctDNA detection in baseline samples taken prior to surgery in 17 of 17 patients. In post-surgery samples, ctDNA could be detected at levels as low as 0.0006% variant allele frequency. In all cases with clinical recurrence to date, ctDNA was detected prior to progression, with lead times ranging from 108 to 253 days. CONCLUSIONS: This study illustrates the potential of ctDNA as a biomarker for detecting minimal residual disease and recurrence in HNSCC and demonstrates the feasibility of personalised ctDNA assays for the detection of disease prior to clinical recurrence.
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spelling pubmed-90234602022-04-28 Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma Flach, Susanne Howarth, Karen Hackinger, Sophie Pipinikas, Christodoulos Ellis, Pete McLay, Kirsten Marsico, Giovanni Forshew, Tim Walz, Christoph Reichel, Christoph A. Gires, Olivier Canis, Martin Baumeister, Philipp Br J Cancer Article BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) remain a substantial burden to global health. Cell-free circulating tumour DNA (ctDNA) is an emerging biomarker but has not been studied sufficiently in HNSCC. METHODS: We conducted a single-centre prospective cohort study to investigate ctDNA in patients with p16-negative HNSCC who received curative-intent primary surgical treatment. Whole-exome sequencing was performed on formalin-fixed paraffin-embedded (FFPE) tumour tissue. We utilised RaDaR(TM), a highly sensitive personalised assay using deep sequencing for tumour-specific variants, to analyse serial pre- and post-operative plasma samples for evidence of minimal residual disease and recurrence. RESULTS: In 17 patients analysed, personalised panels were designed to detect 34 to 52 somatic variants. Data show ctDNA detection in baseline samples taken prior to surgery in 17 of 17 patients. In post-surgery samples, ctDNA could be detected at levels as low as 0.0006% variant allele frequency. In all cases with clinical recurrence to date, ctDNA was detected prior to progression, with lead times ranging from 108 to 253 days. CONCLUSIONS: This study illustrates the potential of ctDNA as a biomarker for detecting minimal residual disease and recurrence in HNSCC and demonstrates the feasibility of personalised ctDNA assays for the detection of disease prior to clinical recurrence. Nature Publishing Group UK 2022-02-07 2022-05-03 /pmc/articles/PMC9023460/ /pubmed/35132238 http://dx.doi.org/10.1038/s41416-022-01716-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Flach, Susanne
Howarth, Karen
Hackinger, Sophie
Pipinikas, Christodoulos
Ellis, Pete
McLay, Kirsten
Marsico, Giovanni
Forshew, Tim
Walz, Christoph
Reichel, Christoph A.
Gires, Olivier
Canis, Martin
Baumeister, Philipp
Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma
title Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma
title_full Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma
title_fullStr Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma
title_full_unstemmed Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma
title_short Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—a personalised circulating tumour DNA analysis in head and neck squamous cell carcinoma
title_sort liquid biopsy for minimal residual disease detection in head and neck squamous cell carcinoma (lioness)—a personalised circulating tumour dna analysis in head and neck squamous cell carcinoma
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023460/
https://www.ncbi.nlm.nih.gov/pubmed/35132238
http://dx.doi.org/10.1038/s41416-022-01716-7
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