RNA-Based Next-Generation Sequencing in Non-Small Cell Lung Cancer patients: data from Campania, Italy

Pathologica. 2024 Oct;116(5):310-319. doi: 10.32074/1591-951X-1015.

Abstract

Objective: ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.

Methods: We retrospectively reviewed data on 201 advanced stage NSCLC patients who were referred to our laboratory for RNA-based molecular evaluation of ALK, ROS1, RET, NTRK gene rearrangements as well as MET exon 14 skipping.

Results: Overall, 23 (11.4%) positive cases were retrieved. Regarding molecular assessment, 11 (5.5%), 2 (1.0%), 9 (4.5%), and 1 (0.5%) out of 201 harbored an ALK, ROS1, RET gene rearrangement, or MET exon 14 skipping, respectively.

Conclusions: In this study, we provide real-world experience on RNA-based NGS analysis in patients with advanced stage NSCLC.

Keywords: NGS; NSCLC; RNA-based biomarkers; molecular oncology; predictive molecular pathology.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anaplastic Lymphoma Kinase / genetics
  • Biomarkers, Tumor / genetics
  • Carcinoma, Non-Small-Cell Lung* / diagnosis
  • Carcinoma, Non-Small-Cell Lung* / genetics
  • Carcinoma, Non-Small-Cell Lung* / pathology
  • Exons / genetics
  • Female
  • Gene Rearrangement
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Italy / epidemiology
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Lung Neoplasms* / pathology
  • Male
  • Middle Aged
  • Protein-Tyrosine Kinases / genetics
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-met / genetics
  • Proto-Oncogene Proteins c-ret* / genetics
  • Receptor, trkA / genetics
  • Retrospective Studies
  • Sequence Analysis, RNA

Substances

  • Proto-Oncogene Proteins c-ret
  • ROS1 protein, human
  • Anaplastic Lymphoma Kinase
  • RET protein, human
  • ALK protein, human
  • Protein-Tyrosine Kinases
  • Biomarkers, Tumor
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-met
  • Receptor, trkA
  • MET protein, human