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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′...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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