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Related Experiment Video

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RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in Turkey.

Orhan Gorukmez1, Ozlem Gorukmez1, Ali Topak1

  • 1Department of Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey.

Human Heredity
|February 13, 2025
PubMed
Summary

Molecular analysis of non-small cell lung cancer (NSCLC) in 462 patients revealed somatic variants in approximately 45%. KRAS and EGFR showed the most variations, with novel fusions also detected.

Keywords:
Genetic alterationNext-generation sequencingNon-small cell lung cancerRNASomatic mutations

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Lung cancer remains a significant global health challenge.
  • Molecular profiling of non-small cell lung cancer (NSCLC) is crucial for personalized treatment.
  • This study analyzes molecular genetic data from a large cohort of NSCLC patients.

Purpose of the Study:

  • To present comprehensive molecular genetic data from NSCLC tumor tissues.
  • To identify common and novel somatic variations, including single-nucleotide variants, insertions/deletions (InDels), and rearrangements.
  • To compare variant frequencies with existing databases like COSMIC.

Main Methods:

  • Next-generation sequencing (NGS) using an RNA-based kit targeting 36 genes.
  • Analysis of tumor tissue samples from 462 NSCLC patients (373 male, 89 female).
  • Demographic data were collected and analyzed alongside molecular findings.

Main Results:

  • Somatic variations were detected in 208 out of 462 patients (approximately 45%).
  • KRAS and EGFR exhibited the highest frequencies of variations.
  • ALK rearrangements were found in 37 patients, and 10 patients had rare complex genetic changes. Novel fusions were also identified.

Conclusions:

  • RNA-based NGS provides comprehensive molecular data, including variants and rearrangements, in NSCLC.
  • The study identified a high rate of variants in KRAS and FGFR3 compared to COSMIC.
  • NGS is instrumental in advancing the understanding and management of solid tissue cancers like NSCLC.