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Related Experiment Video

Updated: Feb 6, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
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Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach: a

Cecily P Vaughn1, José Luis Costa2,3,4, Harriet E Feilotter5

  • 1ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

BMC Cancer
|August 18, 2018
PubMed
Summary

A new RNA fusion panel accurately detects key lung cancer biomarkers ALK, ROS1, and RET in limited samples. This method offers a cost-effective, single-assay solution for identifying actionable gene fusions in lung adenocarcinoma.

Keywords:
BiomarkerDetectionFFPEGene fusionsLung cancerNext-generation sequencing

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genomics

Background:

  • Gene fusions from chromosomal rearrangements are crucial in lung adenocarcinoma initiation.
  • Four oncogenic driver genes (ALK, ROS1, RET, NTRK1) are vital lung tumor biomarkers.
  • Need for advanced technologies to detect these biomarkers in scarce samples.

Purpose of the Study:

  • Evaluate the Ion AmpliSeq™ RNA Fusion Lung Cancer Research Panel.
  • Assess the panel's performance on diverse lung cancer sample types.
  • Determine the diagnostic accuracy of the panel for ALK, ROS1, and RET fusions.

Main Methods:

  • Multi-institutional study utilizing the Ion AmpliSeq™ RNA Fusion Lung Cancer Research Panel.
  • Testing on previously characterized lung tumor samples of various origins.
  • Validation using diluted fusion-positive cell lines for reproducibility.

Main Results:

  • 100% reproducibility between laboratories for fusion detection.
  • High concordance rates: 97% for ALK, 95% for ROS1, 93% for RET.
  • Successful evaluation on diverse clinical samples including biopsies, resections, lymph nodes, and pleural fluid.

Conclusions:

  • The panel enables simultaneous detection of multiple actionable gene fusions (ALK, ROS1, RET, NTRK1).
  • Assay performs well with low input RNA (10 ng).
  • Offers a cost-effective, time-saving, single-assay solution for lung adenocarcinoma biomarker detection.