RT Journal Article
T1 Next-Generation Sequencing (NGS) in non-small cell lung carcinoma: A real-world experience in the public health system of Galicia (Northwest Spain)
A1 Abdulkader Nallib, Ihab
A1 Cameselle Teijeiro, José Manuel
A1 Lesende Rodríguez, Iván
A1 Pérez Becerra, Raquel
A1 Antúnez López, José Ramón
A1 García González, Jorge
A1 León Mateos, Luis
A1 Sánchez Ares, María
AB The validation of several predictive biomarkers has improved the clinical outcomes of non-small cell lung carcinoma (NSCLC) patients. Single tests do not cover the mutational co-occurrences, so they do not detect other alterations, which in many cases are responsible for disease progression. We describe the development and implementation of a customized next generation sequencing (NGS) panel. We analyzed 236 formalin-fixed paraffin-embedded (FFPE) NSCLC samples from the Clinical University Hospital of Santiago de Compostela (Galicia, Northwest Spain) in 2020. Detection of EGFR, KRAS, NRAS, BRAF mutations and ALK, ROS1 rearrangements were determined by real-time polymerase chain reaction (RT-PCR), immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). These results were compared with those obtained by the NGS panel to evaluate the performance of the NGS method and to identify potential novel mutations. Ten discrepancies between NGS and the orthogonal methods were found: 2 cases in the EGFR gene, 1 in the KRAS gene, 5 in the BRAF gene and 2 in the ALK gene. The most prevalent pathogenic alterations detected by NGS were: TP53 (48.7%), KRAS (23.7%), STK11 (9.7%), EGFR (8.5%), PIK3CA (5.5%), CDKN2A (4.7%), BRAF (3.4%) and MET exon skipping 14 (3%); rearrangements were found in ALK and RET (3.5% and 1.7%, respectively). 41.5% of NSCLC patients are harbored co-occurring mutations. Our findings confirmed the robustness, sensitivity and specificity of NGS compared to conventional approaches. NGS has a role not only in the detection of actionable alterations (including concurrent mutations), but also in stratifying patients for therapy.
PB Public Library of Science
SN 1932-6203
YR 2025
FD 2025-07-01
LK https://hdl.handle.net/10347/44836
UL https://hdl.handle.net/10347/44836
LA eng
NO Abdulkader-Nallib I, Cameselle-Teijeiro JM, Lesende-Rodríguez I, Pérez-Becerra R, Antúnez-López JR, García-González J, León-Mateos L, Sánchez-Ares M. Next-Generation Sequencing (NGS) in non-small cell lung carcinoma: A real-world experience in the public health system of Galicia (Northwest Spain). PLoS One. 2025 Jul 1;20(7):e0326336. doi: 10.1371/journal.pone.0326336. PMID: 40591555; PMCID: PMC12212532.
NO This work was partially supported by Instituto de Salud Carlos III (ISCIII), Spain, grant PI23/00722, co-funded by the European Union and by Agilent Technologies though the Codigo 100 program of The Health Knowledge Agency (ACIS) of the Galician Public Health System (Spain).
DS Minerva
RD 30 abr 2026