Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2021 |
| Outros Autores: | , , , , , , , , , , , , , |
| 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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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:RCAAP2023-11-08T16:50:38Zoai:repositorio.ul.pt:10451/47623Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:59:37.153750Repositório 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 |
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article |
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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 |
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info:eu-repo/semantics/openAccess |
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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 |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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