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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
05:17

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

Published on: October 10, 2025

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Non-invasive detection of actionable mutations in advanced non-small-cell lung cancer using targeted sequencing of

Wey Cheng Sim1, Chet Hong Loh1, Grace Li-Xian Toh1

  • 1Molecular Diagnostic Laboratory, Tan Tock Seng Hospital, 308433, Singapore.

Lung Cancer (Amsterdam, Netherlands)
|October 1, 2018
PubMed
Abstract

Insights

Detecting actionable gene mutations in circulating tumor DNA (ctDNA) using next-generation sequencing (NGS) is feasible in advanced non-small-cell lung cancer (NSCLC) patients. This non-invasive method aids treatment guidance and monitoring.

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genomics

Background:

  • Advanced non-small-cell lung cancer (NSCLC) requires precise molecular profiling for targeted therapy selection.
  • Tissue biopsy limitations necessitate alternative methods for detecting actionable mutations.
  • Circulating tumor DNA (ctDNA) analysis offers a minimally invasive approach.

Purpose of the Study:

  • To assess the feasibility of detecting actionable gene mutations in ctDNA from advanced NSCLC patients.
  • To evaluate the accuracy of targeted next-generation sequencing (NGS) for ctDNA analysis.
  • To compare ctDNA results with matched tissue samples.

Main Methods:

  • 50 plasma samples from advanced NSCLC patients were analyzed using a seven-gene panel NGS assay with molecular barcodes.
  • Actionable mutations in BRAF, EGFR, ERBB2, KRAS, NRAS, PIK3CA, and PTEN were targeted.
  • Results were compared with matched tissue biopsies when available; EGFR T790M mutation validated by ddPCR.

Main Results:

  • Actionable alterations were detected in ctDNA in 88% (44/50) of patients.
  • EGFR mutations were the most frequent.
  • High concordance was observed between ctDNA and tissue for EGFR mutations (81%) and for T790M mutation by ddPCR (92%).

Conclusions:

  • Targeted NGS of ctDNA is a feasible and accurate method for detecting actionable mutations in advanced NSCLC.
  • This non-invasive approach provides a valuable alternative for treatment selection and patient monitoring.
  • ctDNA analysis can guide therapy in patients where tissue biopsy is not feasible.
Keywords:
Actionable mutationsCirculating tumor DNAMolecular barcodeNon-invasiveNon-small-cell lung cancerTargeted sequencing

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