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Comprehensive cross-platform comparison of methods for non-invasive EGFR mutation testing : results of the RING observational trial.

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Comprehensive cross-platform comparison of methods for non-invasive EGFR mutation testing : results of the RING observational trial.

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dc.contributor.author Romero Alfonso, Atocha
dc.contributor.author Jantus Lewintre, Eloisa
dc.contributor.author García-Peláez, Beatriz
dc.contributor.author Royuela, Ana
dc.contributor.author Insa Mollá, Amelia
dc.contributor.author Cruz, Patricia
dc.contributor.author Collazo, Ana
dc.contributor.author Pérez Altozano, Javier
dc.contributor.author Juan Vidal, Óscar José
dc.contributor.author Diz Taín, Pilar
dc.contributor.author Cobo, Manuel
dc.contributor.author Hernández Marín, Berta
dc.contributor.author Vázquez Estévez, Sergio
dc.contributor.author Benítez, Gretel
dc.contributor.author Guirado, Maria
dc.contributor.author Majem, Margarita
dc.contributor.author Bernabé, Reyes
dc.contributor.author Ortega, Ana Laura
dc.contributor.author Blasco Cordellat, Ana
dc.contributor.author Bosch Barrera, Joaquim
dc.contributor.author Jurado, José María
dc.contributor.author García González, Jorge
dc.contributor.author Viteri, Santiago
dc.contributor.author García Girón, Carlos
dc.contributor.author Massuti Sureda, Bartomeu
dc.contributor.author López Martín, Ana
dc.contributor.author Rodríguez Festa, Alejandro
dc.contributor.author Calabuig-Fariñas, S.
dc.contributor.author Molina Vila, Miguel Ángel
dc.contributor.author Provencio Pulla, Mariano
dc.date.accessioned 2021-03-26T16:44:20Z
dc.date.available 2021-03-26T16:44:20Z
dc.date.issued 2021
dc.identifier.citation Romero Alfonso, Atocha Jantus Lewintre, Eloisa García-Peláez, Beatriz Royuela, Ana Insa Mollá, Amelia Cruz, Patricia Collazo, Ana Pérez Altozano, Javier Juan Vidal, Óscar José Diz Taín, Pilar Cobo, Manuel Hernández Marín, Berta Vázquez Estévez, Sergio Benítez, Gretel Guirado, Maria Majem, Margarita Bernabé, Reyes Ortega, Ana Laura Blasco Cordellat, Ana Bosch Barrera, Joaquim Jurado, José María García González, Jorge Viteri, Santiago García Girón, Carlos Massuti Sureda, Bartomeu López Martín, Ana Rodríguez Festa, Alejandro Calabuig-Fariñas, S. Molina Vila, Miguel Ángel Provencio Pulla, Mariano 2021 Comprehensive cross-platform comparison of methods for non-invasive EGFR mutation testing : results of the RING observational trial. Molecular Oncology 15 1 43 56
dc.identifier.uri https://hdl.handle.net/10550/78393
dc.description.abstract Abstract Several platforms for noninvasive EGFR testing are currently used in the clinical setting with sensitivities ranging from 30% to 100%. Prospective studies evaluating agreement and sources for discordant results remain lacking. Herein, seven methodologies including two next-generation sequencing (NGS)-based methods, three high-sensitivity PCR-based platforms, and two FDA-approved methods were compared using 72 plasma samples, from EGFR-mutant non-small-cell lung cancer (NSCLC) patients progressing on a first-line tyrosine kinase inhibitor (TKI). NGS platforms as well as high-sensitivity PCR-based methodologies showed excellent agreement for EGFR-sensitizing mutations (K = 0.80-0.89) and substantial agreement for T790M testing (K = 0.77 and 0.68, respectively). Mutant allele frequencies (MAFs) obtained by different quantitative methods showed an excellent reproducibility (intraclass correlation coefficients 0.86-0.98). Among other technical factors, discordant calls mostly occurred at mutant allele frequencies (MAFs) ≤ 0.5%. Agreement significantly improved when discarding samples with MAF ≤ 0.5%. EGFR mutations were detected at significantly lower MAFs in patients with brain metastases, suggesting that these patients risk for a false-positive result. Our results support the use of liquid biopsies for noninvasive EGFR testing and highlight the need to systematically report MAFs. Keywords: NGS; circulating free DNA; epidermal growth factor receptor; non-small-cell lung cancer; osimertinib; tyrosine kinase inhibitor.
dc.language.iso eng
dc.relation.ispartof Molecular Oncology, 2021, vol. 15, num. 1, p. 43-56
dc.subject Càncer
dc.subject Pulmons
dc.title Comprehensive cross-platform comparison of methods for non-invasive EGFR mutation testing : results of the RING observational trial.
dc.type journal article es_ES
dc.date.updated 2021-03-26T16:44:20Z
dc.identifier.doi 10.1002/1878-0261.12832
dc.identifier.idgrec 142781
dc.rights.accessRights open access es_ES

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