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

Published on: October 10, 2025

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Targeted next-generation-sequencing for reliable detection of targetable rearrangements in lung adenocarcinoma-a

Nadezda P Velizheva1, Markus P Rechsteiner1, Nadejda Valtcheva1

  • 1Institute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.

Pathology, Research and Practice
|March 28, 2018
PubMed

Insights

Targeted next-generation sequencing accurately detects gene fusions in lung adenocarcinoma, offering a faster, reliable alternative to traditional methods for guiding targeted therapy decisions.

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genomics

Background:

  • Oncogenic gene fusions are key drivers in lung adenocarcinoma, necessitating precise detection for targeted therapy selection.
  • Current diagnostic methods for gene fusions, such as ALK FISH and immunohistochemistry, can be time-consuming and target-specific.

Purpose of the Study:

  • To evaluate the performance of the Oncomine Focus Assay (OFA), a targeted next-generation sequencing panel, for detecting oncogenic rearrangements in lung adenocarcinoma.
  • To compare OFA with conventional methods for ALK rearrangement detection.
  • To assess the utility of OFA for multiplexed analysis of multiple driver genes.

Main Methods:

  • A cohort of 52 lung adenocarcinoma cases were analyzed.
  • The Oncomine Focus Assay (OFA) was compared against ALK FISH and anti-ALK immunohistochemistry for ALK rearrangement detection.
  • Multiplexed targeted next-generation sequencing was used to identify various gene fusions.

Main Results:

  • OFA demonstrated 100% sensitivity and specificity for detecting ALK rearrangements.
  • OFA identified EML4-ALK, EZR-ROS1, KIF5B-RET, and MET-MET fusions.
  • All identified EML4-ALK, EZR-ROS1, and KIF5B-RET fusions were confirmed by a separate multiplexed NGS assay.

Conclusions:

  • Targeted next-generation sequencing, exemplified by OFA, is a reliable and efficient method for multiplexed detection of targetable gene rearrangements in lung adenocarcinoma.
  • NGS offers a time-saving alternative to conventional single-target assays, improving molecular pathology workflows.
  • Accurate detection of gene fusions via NGS facilitates personalized targeted therapy selection for lung cancer patients.
Keywords:
ALK geneGene fusionLung adenocarcinomaNext generation sequencing

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