Implementation of a 1021-gene liquid biopsy assay for real-world tumor genomic profiling in oncology practice
Rattachement africain : gr, ro, tr, gb, lb. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
The application of advanced next-generation sequencing (NGS) technologies in the analysis of circulating tumor DNA (ctDNA) enabled the comprehensive evaluation of tumor-derived alterations in the bloodstream. In this study, we evaluated the analytical performance and clinical utility of a large-scale liquid biopsy assay in patients with metastatic cancer. A total of 1,110 unique patients underwent ctDNA NGS testing using a 1021-gene panel; matched tissue biopsy data were available for 145 cases. In 16.18% of the cases, at least one on-label variant was identified. In addition, off-label, clinical trial–related, and resistance-associated findings collectively increased the proportion of clinically actionable results by 40.65%. Importantly, 8.65% of the total population could also benefit from immune checkpoint inhibitors (ICI) therapy, based on the high tumor mutational burden (TMB-H) and/or high microsatellite instability (MSI-H) status. Simultaneous analysis in plasma and white blood cells enabled clonal hematopoiesis-associated variants detection, hence increasing the specificity value for ctDNA analysis and confirming the presence of pathogenic germline variants for 11.26% patients. Of interest, concordance for actionable on-label candidates using tissue and plasma analysis was 90.34%, thereby confirming the reliability of liquid biopsy results. Notably, the combination of liquid biopsy analysis, and tissue-based profiling, increased the total number of actionable biomarkers, facilitating targeted therapy and immunotherapy selection, resistance monitoring, and faster clinical decision-making. The broad genomic coverage of the liquid biopsy NGS assay used enabled clinically meaningful genomic characterization across multiple tumor histological types, although tumor-specific generalization is limited by the heterogeneity of the tumor types analyzed. Overall, this study shows that large-scale LB profiling may increase the number of actionable findings detected beyond guideline-based targets. In addition, it provides a more accurate understanding of tumor biology and ctDNA shedding in circulation, while offering the advantage of parallel germline analysis.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Implementation of a 1021-gene liquid biopsy assay for real-world tumor genomic profiling in oncology practice
- Date Crossref
- 20/02/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Athens Medical Center pays non établi dans la noticeÉtablissement de santé
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Interbalkan Medical Center Department of Medical Oncology pays non établi dans la noticeÉtablissement de santé
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Laiko General Hospital of Athens pays non établi dans la noticeÉtablissement de santé
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Agios Pavlos General Hospital pays non établi dans la noticeÉtablissement de santé
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Spitalul Universitar de Urgență Elias pays non établi dans la noticeÉtablissement de santé
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Antalya IVF pays non établi dans la noticeÉtablissement de santé
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Sakarya University pays non établi dans la noticeUniversité ou école supérieure
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Koç University Department of Medical Oncology pays non établi dans la noticeUniversité ou école supérieure
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The Royal Free Hospital Department of Oncology pays non établi dans la noticeÉtablissement de santé
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University College London pays non établi dans la noticeUniversité ou école supérieure
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Saint George Hospital Department of Hematology and Medical Oncology pays non établi dans la noticeÉtablissement de santé
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Aretaeio Hospital pays non établi dans la noticeÉtablissement de santé
Athens Medical Center, Department of Medical Oncology — Interbalkan Medical Center et Laiko General Hospital of Athens, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.