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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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RNA-Based Next-Generation Sequencing in Non-Small Cell Lung Cancer patients: data from Campania, Italy.

Pasquale Pisapia1, Antonino Iaccarino1, Caterina De Luca1

  • 1Department of Public Health, University of Naples Federico II, Naples, Italy.

Pathologica
|January 3, 2025
PubMed
Summary

RNA-based next-generation sequencing (NGS) effectively detects key biomarkers like ALK, ROS1, NTRK, and RET fusions, and MET exon 14 skipping in non-small cell lung cancer (NSCLC). This study highlights its utility in guiding personalized treatment for advanced NSCLC patients.

Keywords:
NGSNSCLCRNA-based biomarkersmolecular oncologypredictive molecular pathology

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genomics

Background:

  • Advanced non-small cell lung cancer (NSCLC) requires precise molecular profiling for targeted therapy selection.
  • Specific genetic alterations, including ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping, are critical predictive biomarkers.
  • RNA-based next-generation sequencing (NGS) is a powerful tool for detecting these fusion and splicing alterations.

Purpose of the Study:

  • To evaluate the utility of a targeted RNA-based NGS panel (SiRe fusion) for detecting key driver alterations in advanced NSCLC.
  • To report real-world molecular data on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping.
  • To assess the frequency of these actionable alterations in a cohort of advanced NSCLC patients.

Main Methods:

  • Retrospective analysis of 201 advanced NSCLC patients.
  • Molecular evaluation using a narrow RNA-based NGS panel (SiRe fusion).
  • Detection of ALK, ROS1, NTRK, and RET gene rearrangements and MET exon 14 skipping alterations.

Main Results:

  • A total of 23 (11.4%) positive cases were identified.
  • Specific alterations detected included ALK fusions (5.5%), ROS1 fusions (1.0%), RET fusions (4.5%), and MET exon 14 skipping (0.5%).
  • The study demonstrates the feasibility of using a targeted RNA-based NGS panel for comprehensive molecular profiling.

Conclusions:

  • RNA-based NGS is a valuable method for identifying actionable genomic alterations in advanced NSCLC.
  • The findings provide real-world evidence supporting the use of this approach for personalized medicine in NSCLC.
  • This molecular information is crucial for guiding optimal treatment strategies in NSCLC patients.