RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center

Per Med. 2022 Sep;19(5):395-401. doi: 10.2217/pme-2022-0020. Epub 2022 Jul 8.

Abstract

Aim: ALK, ROS1, NTRK and RET gene fusions and MET exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. Materials & methods: In the present study, we report our NGS molecular records produced during a year of diagnostic activity. Results: Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored ALK and RET gene rearrangements, respectively: one case harbored ROS1 gene fusion (0.7%). Conclusion: Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.

Keywords: ALK; IHC; MET; NGS; NSCLC; NTRK; RET; ROS1; molecular oncology; predictive molecular pathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anaplastic Lymphoma Kinase / genetics
  • Carcinoma, Non-Small-Cell Lung* / diagnosis
  • Carcinoma, Non-Small-Cell Lung* / genetics
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Protein-Tyrosine Kinases
  • Proto-Oncogene Proteins / genetics
  • RNA
  • Referral and Consultation

Substances

  • Proto-Oncogene Proteins
  • RNA
  • Anaplastic Lymphoma Kinase
  • Protein-Tyrosine Kinases