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

2021Artigo científico Acesso aberto
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dc.contributor.authorSilveira, Catarina
dc.contributor.authorSousa, Ana Carla
dc.contributor.authorJaneiro, André
dc.contributor.authorMalveiro, Sara
dc.contributor.authorTeixeira, Encarnação
dc.contributor.authorBrysch, Eva
dc.contributor.authorPantarotto, Marcos
dc.contributor.authorFelizardo, Margarida
dc.contributor.authorMadureira, Rosa
dc.contributor.authorNogueira, Fernando
dc.contributor.authorGuimarães, Cátia
dc.contributor.authorMatos, Cristina
dc.contributor.authorCanário, Dolores
dc.contributor.authorBruges-Armas, Jácome
dc.contributor.authorCarmo-Fonseca, Maria
dc.date.accessioned2021-04-30T17:19:37Z
dc.date.available2021-04-30T17:19:37Z
dc.date.issued2021
dc.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/.pt_PT
dc.description.abstractBackground: 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.pt_PT
dc.description.sponsorshipThis 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).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationTransl Lung Cancer Res. 2021 Mar;10(3):1200-1208pt_PT
dc.identifier.doi10.21037/tlcr-20-1010pt_PT
dc.identifier.eissn2226-4477
dc.identifier.issn2218-6751
dc.identifier.urihttp://hdl.handle.net/10451/47623
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherAME Publishing Companypt_PT
dc.relationLISBOA-01-0145-FEDER-016394pt_PT
dc.relationInstituto de Medicina Molecular
dc.relationGenotyping circulating tumor DNA for Precision Oncology
dc.relation.publisherversionhttps://tlcr.amegroups.com/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectEGFR T790M mutationpt_PT
dc.subjectLung cancerpt_PT
dc.subjectDroplet digital PCR (ddPCR)pt_PT
dc.subjectLiquid biopsypt_PT
dc.titleDetection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCRpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardNumberUID/BIM/50005/2019
oaire.awardNumberSFRH/BDE/110544/2015
oaire.awardTitleInstituto de Medicina Molecular
oaire.awardTitleGenotyping circulating tumor DNA for Precision Oncology
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID%2FBIM%2F50005%2F2019/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/SFRH%2FBDE%2F110544%2F2015/PT
oaire.citation.endPage1208pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage1200pt_PT
oaire.citation.titleTranslational Lung Cancer Researchpt_PT
oaire.citation.volume10pt_PT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStreamOE
person.familyNameSilveira
person.familyNameCarmo-Fonseca
person.givenNameCatarina
person.givenNameMaria
person.identifier.ciencia-idAE1A-816F-B33A
person.identifier.ciencia-idB31F-0435-0753
person.identifier.orcid0000-0002-4693-1316
person.identifier.orcid0000-0002-3402-7143
person.identifier.scopus-author-id7007128195
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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