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DOI: 10.1055/s-0045-1808008
Feasibility of CTDNA multigenic panel for non-small cell lung cancer: a real-world study from Barretos Cancer Hospital
Detection of actionable mutations in liquid biopsies is a promising tool for management of non-small cell lung cancer (NSCLC) patients. Currently, single-gene assays are available for mutation detection in plasma from NSCLC. A multigenic panel for liquid biopsy would be a tool for the precision medicine of NSCLC. We aimed to evaluate actionable alterations using a multi-gene panel in circulating tumor DNA (ctDNA) of NSCLC patients. We analyzed plasma samples from NSCLC patients: treatment naïve (n = 24) and prior-treated (n = 8). MagMax Cell-free DNA Isolation Kit (ThermoFisher) was used for ctDNA isolation. Driver variants for 11 genes (Oncomine Lung cfDNA Assay) were assessed by Next-Generation Sequecing. Sequencing data were pre-processed in Ion S5 Torrent Server and aligned to the hg19 human reference genome. Variant calls were performed by IonReporter 5.10 software. The cfDNA concentrations ranged from 0.50 to 15.1ng/µL, the limit of detection raised from 0.14%, and the average of Molecular Read Coverage (MRC) was 80,967.43 (33,456 – 187,502). The most mutated gene was TP53 (46%), followed by KRAS (30%) and EGFR (16%). We observed 13 distinct TP53 variants in 14 out of 30 samples (46%), 12 of them co-occurred with another genes, as KRAS, EGFR, BRAF, MAP2K1 and ALK. Variants in MAP2K1, PIK3CA, and ALK genes were detected only in treatment naïve samples (12%, 4% and 4%, respectively). Variants in TP53, KRAS and EGFR genes were found mostly in samples from prior-treated patients (62%, 37%, 37% respectively). No variants were detected in NRAS, ROS1 and MET. In conclusion, ctDNA multigenic panel was feasible and sensitive for detection of actionable mutations in plasma and can reduce turnaround time and might be a valuable tool for precision medicine of NSCLC.
Corresponding author: Letícia Ferro Leal (e-mail: leticiaferroleal@gmail.com).
No conflict of interest has been declared by the author(s).
Publication History
Article published online:
06 May 2025
© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)
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Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Natália Zampieri Pontes, Icaro Alves Pinto, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro De Marchi, Leticia Ferro Leal, Rui Manuel Reis. Feasibility of CTDNA multigenic panel for non-small cell lung cancer: a real-world study from Barretos Cancer Hospital. Brazilian Journal of Oncology 2025; 21.
DOI: 10.1055/s-0045-1808008