Oct 2026· Marmara Medical Journal· 0 citations· 13 references
TL;DR
Plasma-based NGS identifies clinically relevant genomic alterations in metastatic lung adenocarcinoma and complementstissue-based molecular testing in routine practice in a real-world setting.
Abstract
Objective: To determine the frequency and distribution of genomic alterations detected by plasma-based next-generation sequencing(NGS) in metastatic lung adenocarcinoma in a real-world setting.Patients and Methods: This retrospective single-center study included 76 patients with histologically confirmed metastatic lungadenocarcinoma who underwent plasma circulating tumor DNA (ctDNA) NGS between March 2021 and July 2024. Targetedsequencing was performed using a 28-gene panel. Genomic alterations were classified as actionable according to current clinicalguidelines. Concordance with available tissue-based molecular testing was evaluated in the internal cohort.Results: At least one genomic alteration was detected in 43/76 patients (56.6%). Among NGS-positive patients, 19/43 (44.2%) had ≥2alterations. Actionable alterations were identified in 24/76 patients (31.6%;55.8% of NGS-positive cases). The most frequently alteredgenes were TP53 (35.5%), EGFR (18.4%), and KRAS (13.2%). In an exploratory survival analysis of internal NGS-positive patients(n=19), median overall survival (OS) was 27 vs 29 months for patients with and without actionable alterations, respectively (p=0.94).Conclusion: Plasma-based NGS identifies clinically relevant genomic alterations in metastatic lung adenocarcinoma and complementstissue-based molecular testing in routine practice.
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Background:
Comprehensive genomic profiling via tissue DNA next generation sequencing (NGS) is crucial for guiding precision medicine in both metastatic and early-stage non-small cell lung cancer (NSCLC). Complementary tests including liquid biopsy (LB) and tissue RNA sequencing may improve detection of act...
Kimberly J. Toomire, J. Wishengrad, Samuel M. Pettit et al.· JCO Oncology Practice· 0 citations
Circulating tumor DNA (ctDNA) profiling can complement tissue testing in advanced non-small-cell lung cancer (NSCLC), particularly when tissue is unavailable or unable to capture tumor heterogeneity. We evaluated the analytical and clinical performance of Illumina Solid Tumor Panel 80 (IST80 Plus), a focused hybrid-cap...
P. Mediavilla-Medel, R. Serna-Blasco, Lucía Robado de Lope et al.· The journal of liquid biopsy· 0 citations
Abstract Background Circulating tumor DNA (ctDNA) assays can transform patient management by enabling molecular residual disease (MRD) detection, prognosis prediction, and treatment monitoring. Here, we report clinical performance of Signatera Genome, a whole-genome sequencing (WGS)-based ctDNA assay, in a diverse pan-...
Mridula A. George, Gary S. Schwartz, W. McHayleh et al.· The Oncologist· 0 citations
Plasma circulating tumor DNA (ctDNA) profiling may complement tissue hotspot testing and reveal molecular changes during treatment of metastatic colorectal cancer (mCRC). We prospectively studied 39 patients with newly diagnosed unresectable mCRC receiving first-line therapy. Cell-free DNA was collected before treatmen...
G. Zakharova, O. Zauzolkov, A. Khristichenko et al.· International Journal of Mol...· 0 citations
The IMS-IMWG 2025 updated definition of high-risk multiple myeloma (HRMM) introduced next-generation sequencing (NGS) based detection of TP53 single-nucleotide variants (SNV) as an independent high-risk factor. However, most published data on TP53 SNVs in MM derive from exploratory research studies using NGS interpreta...
S. Beer, Elisa Seneca, G. Bertuglia et al.· Clinical Lymphoma, Myeloma &...· 0 citations
To evaluate the utility of plasma-derived cell-free DNA (cfDNA) using targeted next-generation sequencing (NGS) for molecular profiling of diffuse gliomas (DG) by assessing concordance with matched tumor tissue DNA, mutation profiles, variant allele frequencies, therapeutically actionable alterations, and surviva...
Swati Singh, Jyotsna Singh, S. Bhardwaj et al.· Neuro-Oncology Advances· 0 citations
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