ArticleDiagnostics (Basel, Switzerland)2021
Implementation of Next Generation Sequencing-Based Liquid Biopsy for Clinical Molecular Diagnostics in Non-Small Cell Lung Cancer (NSCLC) Patients.
Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Efficacy of liquid biopsy for genetic mutations determination in non-small cell lung cancer: a systematic review on literatures.BMC cancer · 2025Pooled it
- EGFR G719X + S768I co-mutations in NSCLC: genomic landscape and differential responses to EGFR-TKIs in a large real-world cohort.BMC cancer · 2026Article
- Baseline levels and dynamic changes of cfDNA, tumor fraction and mutations to anticipate the clinical course of small cell lung cancer (SCLC) patients treated with first-line atezolizumab and chemotherapy: an hypothesis generating study (CATS/ML43257).Journal of experimental & clinical cancer research : CR · 2025Article
- Clinical Utility of ctDNA Analysis in Lung Cancer-A Review.Advances in respiratory medicine · 2025Review
- Binary classification of copy number alteration profiles in liquid biopsy with potential clinical impact in advanced NSCLC.Scientific reports · 2024Article
- Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing.International journal of molecular sciences · 2023Article
- Longitudinal liquid biopsy anticipates hyperprogression and early death in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors.British journal of cancer · 2022Article
- Special Issue: Next-Generation Sequencing in Tumor Diagnosis and Treatment II.Diagnostics (Basel, Switzerland) · 2022Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Genetic screening of somatic mutations in circulating free DNA (cfDNA) opens up new opportunities for personalized medicine. In this study, we aim to illustrate the implementation of NGS-based liquid biopsy in clinical practice for the detection of somatic alterations in selected genes. Our work is particularly relevant for the diagnosis and treatment of NSCLC. Beginning in 2020, we implemented the use of Roche's Avenio ctDNA expanded panel in our diagnostic routine. In this study, we retrospectively review NGS-based clinical genetic tests performed in our laboratory, focusing on key analytical parameters. Avenio ctDNA kits demonstrated 100% sensitivity in detecting single nucleotide variants (SNVs) at >0.5% variant allele frequency (VAF), and high consistency in reproducibility. Since 2020, we performed cfDNA genotyping test in 86 NSCLC patients, and we successfully sequenced 96.5% (83/86) of samples. We observed consistency in sequencing performance based upon sequencing depth and on-target rate. At least one gene variant was identified in 52 samples (63%), and one or more actionable variants were detected in 21 out of 83 (25%) of analysed patients. We demonstrated the feasibility of implementing an NGS-based liquid biopsy assay for routine genetic characterization of metastatic NSCLC patients.
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