Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands

Abstract Tumor molecular profiling is essential for therapeutic management of advanced non-small cell lung cancer (NSCLC). However, a biopsy is not for every patient possible and can have complications, which plasma derived circulating tumor DNA (ctDNA) analysis could overcome. We assessed the clini...

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Main Authors: Tessa J. J. de Bitter, Maartje J. Geerlings, Leonie I. Kroeze, Daniel von Rhein, Milou M. F. Schuurbiers, Janne M. Bibbe, Joyce A. M. G. Smeijers, Hicham Ouchene, Christian Gilissen, Tom G. J. Hofste, Marjan M. Weiss, Longkankernet, Lisenka E. L. M. Vissers, Michel M. van den Heuvel, Marjolijn J. L. Ligtenberg
Format: Article
Language:English
Published: Nature Portfolio 2025-08-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-13667-z
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author Tessa J. J. de Bitter
Maartje J. Geerlings
Leonie I. Kroeze
Daniel von Rhein
Milou M. F. Schuurbiers
Janne M. Bibbe
Joyce A. M. G. Smeijers
Hicham Ouchene
Christian Gilissen
Tom G. J. Hofste
Marjan M. Weiss
Longkankernet
Lisenka E. L. M. Vissers
Michel M. van den Heuvel
Marjolijn J. L. Ligtenberg
author_facet Tessa J. J. de Bitter
Maartje J. Geerlings
Leonie I. Kroeze
Daniel von Rhein
Milou M. F. Schuurbiers
Janne M. Bibbe
Joyce A. M. G. Smeijers
Hicham Ouchene
Christian Gilissen
Tom G. J. Hofste
Marjan M. Weiss
Longkankernet
Lisenka E. L. M. Vissers
Michel M. van den Heuvel
Marjolijn J. L. Ligtenberg
author_sort Tessa J. J. de Bitter
collection DOAJ
description Abstract Tumor molecular profiling is essential for therapeutic management of advanced non-small cell lung cancer (NSCLC). However, a biopsy is not for every patient possible and can have complications, which plasma derived circulating tumor DNA (ctDNA) analysis could overcome. We assessed the clinical utility of ctDNA next-generation sequencing (ctDNA-NGS) in 72 NSCLC patients, including 59 who underwent both standard of care (SoC) tissue- or cytology-based genotyping and ctDNA-NGS and 13 who underwent only ctDNA-NGS. Hypothetical shifts in diagnostic yield of a ctDNA-first strategy were modelled using real-world NSCLC molecular testing data from The Netherlands. Concordance between SoC and ctDNA-NGS was 71.2%. In fifteen patients (25.4%) results were discordant, but without direct therapeutic impact. In two patients (3.4%), ctDNA-NGS missed an actionable driver, which would directly impact therapy. Hypothetical shifts in diagnostic yield of a ctDNA-first strategy were determined. This predicted a 7.0% decrease in diagnostic yield for (non-) actionable drivers if all patients underwent ctDNA-NGS, including those currently tested in SoC and those not. Offering ctDNA-NGS only to patients not tested in SoC would increase the diagnostic yield by 6.7%. In conclusion, ctDNA-NGS shows promise for predictive diagnostics in advanced NSCLC, offering added value alongside SoC, but comes with assay-specific and biological challenges.
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spelling doaj-art-eb0e16c56473494f99d1cde2a68808922025-08-24T11:30:30ZengNature PortfolioScientific Reports2045-23222025-08-0115111210.1038/s41598-025-13667-zClinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the NetherlandsTessa J. J. de Bitter0Maartje J. Geerlings1Leonie I. Kroeze2Daniel von Rhein3Milou M. F. Schuurbiers4Janne M. Bibbe5Joyce A. M. G. Smeijers6Hicham Ouchene7Christian Gilissen8Tom G. J. Hofste9Marjan M. Weiss10LongkankernetLisenka E. L. M. Vissers11Michel M. van den Heuvel12Marjolijn J. L. Ligtenberg13Department of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Pathology, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Respiratory Medicine, Radboud university medical centerDepartment of Pathology, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Pathology, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerDepartment of Respiratory Medicine, Radboud university medical centerDepartment of Human Genetics, Radboudumc Research Institute for Medical Innovation, Radboud university medical centerAbstract Tumor molecular profiling is essential for therapeutic management of advanced non-small cell lung cancer (NSCLC). However, a biopsy is not for every patient possible and can have complications, which plasma derived circulating tumor DNA (ctDNA) analysis could overcome. We assessed the clinical utility of ctDNA next-generation sequencing (ctDNA-NGS) in 72 NSCLC patients, including 59 who underwent both standard of care (SoC) tissue- or cytology-based genotyping and ctDNA-NGS and 13 who underwent only ctDNA-NGS. Hypothetical shifts in diagnostic yield of a ctDNA-first strategy were modelled using real-world NSCLC molecular testing data from The Netherlands. Concordance between SoC and ctDNA-NGS was 71.2%. In fifteen patients (25.4%) results were discordant, but without direct therapeutic impact. In two patients (3.4%), ctDNA-NGS missed an actionable driver, which would directly impact therapy. Hypothetical shifts in diagnostic yield of a ctDNA-first strategy were determined. This predicted a 7.0% decrease in diagnostic yield for (non-) actionable drivers if all patients underwent ctDNA-NGS, including those currently tested in SoC and those not. Offering ctDNA-NGS only to patients not tested in SoC would increase the diagnostic yield by 6.7%. In conclusion, ctDNA-NGS shows promise for predictive diagnostics in advanced NSCLC, offering added value alongside SoC, but comes with assay-specific and biological challenges.https://doi.org/10.1038/s41598-025-13667-zLiquid biopsyCirculating tumor DNAClinical utilityNon-small cell lung cancerActionable driverDiagnostic yield
spellingShingle Tessa J. J. de Bitter
Maartje J. Geerlings
Leonie I. Kroeze
Daniel von Rhein
Milou M. F. Schuurbiers
Janne M. Bibbe
Joyce A. M. G. Smeijers
Hicham Ouchene
Christian Gilissen
Tom G. J. Hofste
Marjan M. Weiss
Longkankernet
Lisenka E. L. M. Vissers
Michel M. van den Heuvel
Marjolijn J. L. Ligtenberg
Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands
Scientific Reports
Liquid biopsy
Circulating tumor DNA
Clinical utility
Non-small cell lung cancer
Actionable driver
Diagnostic yield
title Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands
title_full Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands
title_fullStr Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands
title_full_unstemmed Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands
title_short Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands
title_sort clinical utility of liquid biopsy next generation sequencing for advanced non small cell lung cancer in the netherlands
topic Liquid biopsy
Circulating tumor DNA
Clinical utility
Non-small cell lung cancer
Actionable driver
Diagnostic yield
url https://doi.org/10.1038/s41598-025-13667-z
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