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[Detection of lung cancer driver genes by next-generation sequencing: a comparative analysis of plasma and histological/cytological samples]

  • 0Department of Pathology, Quanzhou First Hospital Affiliated to the Fujian Medical University, Quanzhou 362002, China.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology +

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July 6, 2025

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July 6, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Plasma samples show lower detection rates for lung cancer driver genes compared to tissue samples using next-generation sequencing (NGS). However, plasma testing offers good clinical efficiency, especially for advanced non-small cell lung cancer.

Area Of Science

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background

  • Next-generation sequencing (NGS) is crucial for identifying lung cancer driver gene mutations.
  • Plasma-based liquid biopsies offer a less invasive alternative to traditional tissue biopsies.
  • Comparing the efficacy of plasma versus tissue/cytological samples is essential for optimizing clinical practice.

Purpose Of The Study

  • To compare the diagnostic performance of plasma samples and histological/cytological samples for detecting lung cancer driver genes using NGS.
  • To provide data-driven recommendations for sample selection in clinical lung cancer management.

Main Methods

  • A retrospective analysis of 220 lung cancer patients was conducted.
  • NGS was performed on both plasma and matched tissue/cytological samples.
  • Detection rates, sensitivity, specificity, and agreement between sample types were analyzed for eight key lung cancer driver genes.

Main Results

  • Plasma samples had a lower detection rate (54.5%) compared to tissue/cytological samples (69.1%).
  • Plasma detection rates were significantly lower in early-stage (I-III) lung cancer (12.9%) versus stage IV (61.4%).
  • The overall agreement rate between plasma and tissue/cytology was 80.0%, with plasma sensitivity of 75.0% and specificity of 91.7%.

Conclusions

  • Plasma-based NGS for lung cancer driver gene detection yields a lower positive rate than tissue but demonstrates good clinical utility.
  • Plasma testing shows high consistency (80%) and sensitivity (>70%) with tissue/cytology.
  • Plasma samples are particularly effective for detecting driver gene mutations in stage IV non-small cell lung cancer.