Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR

Detalhes bibliográficos
Autor(a) principal: Silveira, Catarina
Data de Publicação: 2021
Outros Autores: Sousa, Ana Carla, Janeiro, André, Malveiro, Sara, Teixeira, Encarnação, Brysch, Eva, Pantarotto, Marcos, Felizardo, Margarida, Madureira, Rosa, Nogueira, Fernando, Guimarães, Cátia, Matos, Cristina, Canário, Dolores, Bruges-Armas, Jácome, Carmo-Fonseca, Maria
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/47623
Resumo: © Translational Lung Cancer Research. All rights reserved. This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.
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spelling Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCREGFR T790M mutationLung cancerDroplet digital PCR (ddPCR)Liquid biopsy© Translational Lung Cancer Research. All rights reserved. This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.Background: Liquid biopsy allows the identification of targetable cancer mutations in a minimally invasive manner. In patients with advanced non-small cell lung cancer (NSCLC), droplet digital PCR (ddPCR) is increasingly used to genotype the epidermal growth factor receptor (EGFR) gene in circulating cell-free DNA (cfDNA). However, the sensitivity of this method is still under debate. The aim of this study was to implement and assess the performance of a ddPCR assay for detecting the EGFR T790M mutation in liquid biopsies. Methods: A ddPCR assay was optimized to detect the EGFR T790M mutation in plasma samples from 77 patients with NSCLC in progression. Results: Our ddPCR assay enabled the detection and quantification of the EGFR T790M mutation at cfDNA allele frequency as low as 0.5%. The mutation was detected in 40 plasma samples, corresponding to a positivity rate of 52%. The number of mutant molecules per mL of plasma ranged from 1 to 6,000. A re-biopsy was analyzed for 12 patients that had a negative plasma test and the mutation was detected in 2 cases. A second liquid biopsy was performed for 6 patients and the mutation was detected in 3 cases. Conclusions: This study highlights the value of ddPCR to detect and quantify the EGFR T790M mutation in liquid biopsies in a real-world clinical setting. Our results suggest that repeated ddPCR tests in cfDNA may obviate tissue re-biopsy in patients unable to provide a tumor tissue sample suitable for molecular analysis.This work was supported by Fundação para a Ciência e Tecnologia (FCT)/Ministério da Ciência, Tecnologia e Ensino Superior - Fundos do Orçamento de Estado (UID/BIM/50005/2019), and FCT/FEDER/POR Lisboa 2020, Programa Operacional Regional de Lisboa, PORTUGAL 2020 (LISBOA-01-0145-FEDER-016394). C.S. was a recipient of a FCT fellowship (SFRH/BDE/110544/2015).AME Publishing CompanyRepositório da Universidade de LisboaSilveira, CatarinaSousa, Ana CarlaJaneiro, AndréMalveiro, SaraTeixeira, EncarnaçãoBrysch, EvaPantarotto, MarcosFelizardo, MargaridaMadureira, RosaNogueira, FernandoGuimarães, CátiaMatos, CristinaCanário, DoloresBruges-Armas, JácomeCarmo-Fonseca, Maria2021-04-30T17:19:37Z20212021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/47623engTransl Lung Cancer Res. 2021 Mar;10(3):1200-12082218-675110.21037/tlcr-20-10102226-4477info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-11-20T18:06:07Zoai:repositorio.ul.pt:10451/47623Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-11-20T18:06:07Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
title Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
spellingShingle Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
Silveira, Catarina
EGFR T790M mutation
Lung cancer
Droplet digital PCR (ddPCR)
Liquid biopsy
title_short Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
title_full Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
title_fullStr Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
title_full_unstemmed Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
title_sort Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
author Silveira, Catarina
author_facet Silveira, Catarina
Sousa, Ana Carla
Janeiro, André
Malveiro, Sara
Teixeira, Encarnação
Brysch, Eva
Pantarotto, Marcos
Felizardo, Margarida
Madureira, Rosa
Nogueira, Fernando
Guimarães, Cátia
Matos, Cristina
Canário, Dolores
Bruges-Armas, Jácome
Carmo-Fonseca, Maria
author_role author
author2 Sousa, Ana Carla
Janeiro, André
Malveiro, Sara
Teixeira, Encarnação
Brysch, Eva
Pantarotto, Marcos
Felizardo, Margarida
Madureira, Rosa
Nogueira, Fernando
Guimarães, Cátia
Matos, Cristina
Canário, Dolores
Bruges-Armas, Jácome
Carmo-Fonseca, Maria
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Silveira, Catarina
Sousa, Ana Carla
Janeiro, André
Malveiro, Sara
Teixeira, Encarnação
Brysch, Eva
Pantarotto, Marcos
Felizardo, Margarida
Madureira, Rosa
Nogueira, Fernando
Guimarães, Cátia
Matos, Cristina
Canário, Dolores
Bruges-Armas, Jácome
Carmo-Fonseca, Maria
dc.subject.por.fl_str_mv EGFR T790M mutation
Lung cancer
Droplet digital PCR (ddPCR)
Liquid biopsy
topic EGFR T790M mutation
Lung cancer
Droplet digital PCR (ddPCR)
Liquid biopsy
description © Translational Lung Cancer Research. All rights reserved. This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.
publishDate 2021
dc.date.none.fl_str_mv 2021-04-30T17:19:37Z
2021
2021-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/47623
url http://hdl.handle.net/10451/47623
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Transl Lung Cancer Res. 2021 Mar;10(3):1200-1208
2218-6751
10.21037/tlcr-20-1010
2226-4477
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv AME Publishing Company
publisher.none.fl_str_mv AME Publishing Company
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv mluisa.alvim@gmail.com
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