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October 12, 2025Molecular Oncology0 citationsOpen Access

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

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GCGiovanna Maria Stanfoca CasagrandeMSMarcela de Oliveira SilvaRRRui Manuel Reis

Key Points

  • Actionable mutations were detected in circulating tumor DNA, improving early detection and management.
  • TP53 mutations were found in 40.6% of samples, with EGFR mutations at 12.5%.
  • Assessment using a commercial NGS panel revealed significant variant calling potential.
  • Findings suggest that targeted ctDNA analysis can enhance precision oncology in lung cancer surveillance.

Abstract

The detection of actionable mutations in liquid biopsies is a crucial tool for precision oncology in patients with non‐small‐cell lung cancer (NSCLC). We evaluated actionable alterations using a multigene panel in circulating tumor DNA (ctDNA) from Brazilian NSCLC patients. We analyzed 32 samples from 30 patients with NSCLC, including four samples from a lung cancer screening program. ctDNA isolation and library preparation were performed using the Oncomine Lung cfDNA Assay, which covers 11 actionable genes, and sequenced on an Ion S5 Sequencer. The IonReporter 5.20 software was used for variant calling. Median read coverage reached 80 967, with a detection limit of 0.1%. TP53 (40.6%) , KRAS (28.1%), and EGFR (12.5%) were the most frequently mutated genes, particularly in patients who had previously received treatment. BRAF, MAP2K1, PIK3CA, and ALK mutations were observed at lower frequencies (6.2%, 3.1%, 3.1%, and 3.1%, respectively). The EGFR p.T790M mutations related to resistance were identified in a patient who had been previously treated, and the TP53 p.R248Q mutation was discovered in an asymptomatic patient before diagnosis. No variants were observed in NRAS, ROS1, and MET genes. Our data showed that this commercial NGS panel could detect actionable mutations, enabling early detection, treatment monitoring, and disease surveillance.

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Cite This Study

Casagrande et al. (2025) studied this question.

synapsesocial.com/papers/68ebe3d6becc64ad52fdaf5dhttps://doi.org/10.1002/1878-0261.70131
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