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Updated: Jan 6, 2026
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Diagnostic accuracy of next-generation sequencing (NGS) for identifying actionable mutations in advanced non-small
Nicolás Téllez Castillo1, Ana M Goyeneche-García2, Luisa M Montoya Quesada3
1Faculty of Medicine, Department of Internal Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia. jnicolas.tellezc@javeriana.edu.co.
Purpose:
To evaluate the diagnostic accuracy and clinical performance of next-generation sequencing (NGS) compared to conventional techniques for detecting actionable mutations using tissue or liquid biopsy samples in patients with advanced non-small cell lung cancer.
Methods:
A systematic review and meta-analysis of diagnostic test studies (PROSPERO: CRD42023450465) were conducted. We included studies with sufficient comparative data, using a t test to analyze turnaround time differences and hypothesis testing for valid result proportions (p < 0.05). The meta-analysis, performed in Stata 17®, pooled sensitivities and specificities by mutation and evaluation technique. The QUADAS-2 tool assessed study quality.
Results:
A total of 56 studies involving 7143 patients were analyzed. No significant differences were found in valid result percentages between standard tests and NGS in tissue (85.57% vs. 85.78%; p = 0.99) and liquid biopsy (81.50% vs. 91.72%; p = 0.277). Liquid biopsy had a significantly shorter turnaround time (8.18 vs. 19.75 days; p < 0.001). NGS demonstrated high accuracy in tissue for EGFR (sensitivity: 93%, specificity: 97%) and ALK rearrangements (sensitivity: 99%, specificity: 98%). In liquid biopsy, NGS was effective for EGFR, BRAF V600E, KRAS G12C, and HER2 (sensitivity: 80%, specificity: 99%) but had limited sensitivity for ALK, ROS1, RET, and NTRK rearrangements.
Conclusions:
NGS enables comprehensive mutation analysis, particularly for point mutations. Further validation is required to improve the detection of gene rearrangements.
