Comparison of targeted next generation sequencing assays in non-small cell lung cancer patients

  • Ieva Drejeriene
  • , Jurate Gruode
  • , Saulius Cicenas
  • , Charalambos Loizides
  • , Alexia Eliades
  • , Achilleas Achilleos
  • , Elena Kypri
  • , Kyriakos Tsangaras
  • , Marios Ioannides
  • , George Koumbaris
  • , Diana Stanciute
  • , Arnoldas Krasauskas
  • , Philippos C. Patsalis

Research output: Contribution to journalArticlepeer-review

Abstract

Non-small cell lung cancer (NSCLC) is the most prevalent type of lung cancer the mutational spectrum of which has been extensively characterized. Treatment of patients with NSCLC based on their molecular profile is now part of the standard clinical care. The aim of this study was firstly to investigate two different NGS-based tumor profile genetic tests and secondly to assess the clinical actionability of the mutations and their association with survival and clinicopathological characteristics. Overall, 52 mutations were identified in 31 patients by either one or both assays. The most frequently mutated genes were TP53 (40.4%), KRAS (13.46%) and EGFR (9.62%). TP53 and KRAS mutations were associated with worst overall survival while KRAS was positively correlated with adenocarcinoma. The two methods showed a high concordance for the commonly covered genomic regions (97.14%). Ten mutations were identified in a genomic region exclusively covered by the MEDICOVER Genetics custom tumor profile assay. Likewise, one MET mutation was identified by the Ion Amliseq assay in a genomic region exclusively covered by Ion Amliseq. In conclusion both assays showed highly similar results in the commonly covered genomic areas, however, the MEDICOVER Genetics assay identified additional clinically actionable mutations that can be applied in clinical practice for personalized treatment decision making for patients with NSCLC.

Original languageEnglish
Article number757
JournalDiscover Oncology
Volume15
Issue number1
DOIs
Publication statusPublished - Dec 2024
Externally publishedYes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • clinical utility
  • mutational profile
  • next generation sequencing
  • NSCLC

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