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Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic
Introduction: Cell-free DNA (cfDNA) analysis offers a non-invasive method to identify sensitising and resistance mutations in advanced Non-Small Cell Lung Cancer (NSCLC) patients. Next-generation sequencing (NGS) of circulating free DNA (cfDNA) is a valuable tool for mutations detection and disease′...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394732/ https://www.ncbi.nlm.nih.gov/pubmed/34440680 http://dx.doi.org/10.3390/cells10081912 |
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author | Fernandes, Maria Gabriela O. Sousa, Catarina Pereira Reis, Joana Cruz-Martins, Natália Souto Moura, Conceição Guimarães, Susana Justino, Ana Pina, Maria João Magalhães, Adriana Queiroga, Henrique Marques, José Agostinho Machado, José Carlos Costa, José Luís Hespanhol, Venceslau |
author_facet | Fernandes, Maria Gabriela O. Sousa, Catarina Pereira Reis, Joana Cruz-Martins, Natália Souto Moura, Conceição Guimarães, Susana Justino, Ana Pina, Maria João Magalhães, Adriana Queiroga, Henrique Marques, José Agostinho Machado, José Carlos Costa, José Luís Hespanhol, Venceslau |
author_sort | Fernandes, Maria Gabriela O. |
collection | PubMed |
description | Introduction: Cell-free DNA (cfDNA) analysis offers a non-invasive method to identify sensitising and resistance mutations in advanced Non-Small Cell Lung Cancer (NSCLC) patients. Next-generation sequencing (NGS) of circulating free DNA (cfDNA) is a valuable tool for mutations detection and disease′s clonal monitoring. Material and methods: An amplicon-based targeted gene NGS panel was used to analyse 101 plasma samples of advanced non-small cell lung cancer (NSCLC) patients with known oncogenic mutations, mostly EGFR mutations, serially collected at different clinically relevant time points of the disease. Results: The variant allelic frequency (VAF) monitoring in consecutive plasma samples demonstrated different molecular response and progression patterns. The decrease in or the clearance of the mutant alleles was associated with response and the increase in or the emergence of novel alterations with progression. At the best response, the median VAF was 0% (0.0% to 3.62%), lower than that at baseline, with a median of 0.53% (0.0% to 9.9%) (p = 0.004). At progression, the VAF was significantly higher (median 4.67; range: 0.0–36.9%) than that observed at the best response (p = 0.001) and baseline (p = 0.006). These variations anticipated radiographic changes in most cases, with a median time of 0.86 months. Overall, the VAF evolution of different oncogenic mutations predicts clinical outcomes. Conclusion: The targeted NGS of circulating tumour DNA (ctDNA) has clinical utility to monitor treatment response in patients with advanced lung adenocarcinoma. |
format | Online Article Text |
id | pubmed-8394732 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83947322021-08-28 Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic Fernandes, Maria Gabriela O. Sousa, Catarina Pereira Reis, Joana Cruz-Martins, Natália Souto Moura, Conceição Guimarães, Susana Justino, Ana Pina, Maria João Magalhães, Adriana Queiroga, Henrique Marques, José Agostinho Machado, José Carlos Costa, José Luís Hespanhol, Venceslau Cells Article Introduction: Cell-free DNA (cfDNA) analysis offers a non-invasive method to identify sensitising and resistance mutations in advanced Non-Small Cell Lung Cancer (NSCLC) patients. Next-generation sequencing (NGS) of circulating free DNA (cfDNA) is a valuable tool for mutations detection and disease′s clonal monitoring. Material and methods: An amplicon-based targeted gene NGS panel was used to analyse 101 plasma samples of advanced non-small cell lung cancer (NSCLC) patients with known oncogenic mutations, mostly EGFR mutations, serially collected at different clinically relevant time points of the disease. Results: The variant allelic frequency (VAF) monitoring in consecutive plasma samples demonstrated different molecular response and progression patterns. The decrease in or the clearance of the mutant alleles was associated with response and the increase in or the emergence of novel alterations with progression. At the best response, the median VAF was 0% (0.0% to 3.62%), lower than that at baseline, with a median of 0.53% (0.0% to 9.9%) (p = 0.004). At progression, the VAF was significantly higher (median 4.67; range: 0.0–36.9%) than that observed at the best response (p = 0.001) and baseline (p = 0.006). These variations anticipated radiographic changes in most cases, with a median time of 0.86 months. Overall, the VAF evolution of different oncogenic mutations predicts clinical outcomes. Conclusion: The targeted NGS of circulating tumour DNA (ctDNA) has clinical utility to monitor treatment response in patients with advanced lung adenocarcinoma. MDPI 2021-07-28 /pmc/articles/PMC8394732/ /pubmed/34440680 http://dx.doi.org/10.3390/cells10081912 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Fernandes, Maria Gabriela O. Sousa, Catarina Pereira Reis, Joana Cruz-Martins, Natália Souto Moura, Conceição Guimarães, Susana Justino, Ana Pina, Maria João Magalhães, Adriana Queiroga, Henrique Marques, José Agostinho Machado, José Carlos Costa, José Luís Hespanhol, Venceslau Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic |
title | Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic |
title_full | Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic |
title_fullStr | Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic |
title_full_unstemmed | Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic |
title_short | Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic |
title_sort | liquid biopsy for disease monitoring in non-small cell lung cancer: the link between biology and the clinic |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394732/ https://www.ncbi.nlm.nih.gov/pubmed/34440680 http://dx.doi.org/10.3390/cells10081912 |
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