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Purpose <p>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.</p> Methods <p>A systematic review and meta-analysis of diagnostic test studies (PROSPERO: CRD42023450465) were conducted. We included studies with sufficient comparative data, using a <i>t</i> test to analyze turnaround time differences and hypothesis testing for valid result proportions (<i>p</i> &lt; 0.05). The meta-analysis, performed in Stata 17<sup>®</sup>, pooled sensitivities and specificities by mutation and evaluation technique. The QUADAS-2 tool assessed study quality.</p> Results <p>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&#xa0;days; p &lt; 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.</p> Conclusions <p>NGS enables comprehensive mutation analysis, particularly for point mutations. Further validation is required to improve the detection of gene rearrangements.</p>

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Diagnostic accuracy of next-generation sequencing (NGS) for identifying actionable mutations in advanced non-small cell lung cancer: Systematic Review and Meta-Analysis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月13日

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  • Nicolás Téllez Castillo,
  • Ana M. Goyeneche-García,
  • Luisa M. Montoya Quesada,
  • Oscar A. Gamboa Garay,
  • Ricardo E. Bruges Maya

摘要

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.