2026-04-29T04:10:21Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/229122024-11-28T21:11:12Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Esteva-Socias, Margalida author Enver-Sumaya, Mónica author Gómez-Bellvert, Cristina author Guillot, Monica author Azkárate, Aitor author Marsé, Raquel author Sastre, Úrsula author Blasco, Ana author Calabuig-Fariñas, Silvia author Asensio, Víctor José author Terrasa Pons, Josefa author Obrador-Hevia, Antonia author 2020 Objectives: The main objectives of the study were (1) to set-up a droplet digital PCR (ddPCR) assay for the non-invasive detection of G719S EGFR mutation in NSCLC patients; (2) to determine the limits of detection of the ddPCR assay for G719S mutation and (3) to compare COBAS® and ddPCR System for G719S quantification in plasma. Materials and Methods: Blood samples were collected from 22 patients diagnosed with advanced NSCLC. Then, plasma ctDNA was extracted with the Qiagen Circulating Nucleic Acids kit and quantified by QuantiFluor® dsDNA System. The mutational study of EGFR was carried out by digital droplet PCR (ddPCR) with the QX200 Droplet Digital PCR System with specific probes and primers. Results: We observed the lowest percentage of G719S mutant allele could be detected in a wildtype background was 0.058%. In the specificity analysis, low levels of G719S mutation were detected in healthy volunteers with a peak of 21.65 mutant copies per milliliter of plasma and 6.35 MAFs. In those patients whose tissue biopsy was positive for G719S mutation, mutant alleles could also be detected in plasma using both ddPCR and COBAS® System. Finally, when mutational status was studied using both genotyping techniques, higher mutant copies/ml and higher mutant allele fraction (MAF) correlated with higher Semiquantitative Index obtained by COBAS®. Conclusions: Although tissue biopsies cannot be replaced due to the large amount of information they provide regarding tumor type and structure, liquid biopsy and ddPCR represents a new promising strategy for genetic analysis of tumors from plasma samples. In the present study, G719S mutation was detected in a highly sensitive manner, allowing its monitorization with a non-invasive technique. Esteva-Socias M, Enver-Sumaya M, Gómez-Bellvert C, Guillot M, Azkárate A, Marsé R, et al. Detection of the EGFR G719S Mutation in Non-small Cell Lung Cancer Using Droplet Digital PCR. Front Med. 2020 Nov 13;7. 2296-858X http://hdl.handle.net/20.500.13003/18552 https://hdl.handle.net/20.500.12105/22912 33282894 10.3389/fmed.2020.594900 Frontiers in medicine 593494800001 Detection of the EGFR G719S Mutation in Non-small Cell Lung Cancer Using Droplet Digital PCR