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

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.

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Publication Details

Journal
Discover Oncology
Published
2024-12-18
DOI
https://doi.org/10.1007/s12672-024-01640-7
Citations
1
Primary Topic
Lung Cancer Treatments and Mutations
Type
article
Field-Weighted Citation Impact
0.42
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article

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

Arnoldas Krasauskas, Elena Kypri, Diana Stančiūtė, Saulius Cicėnas et al.
1 citations
Discover Oncology
Lung Cancer Treatments and Mutations
0.42
article

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

Arnoldas Krasauskas, Elena Kypri, Diana Stančiūtė, Saulius Cicėnas, Philippos C. Patsalis, Jurate Gruode, Achilleas Achilleos, George Koumbaris, Charalambos Loizides, Kyriakos Tsangaras, Alexia Eliades, Ieva Drejeriene, Marios Ioannides
article en
1 citations

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.

Discover OncologyVol. 15(1)
Vilnius University (LT), University of Nicosia (CY), Klaipėda University (LT), Medicover (DE), National Cancer Institute (LT), Republic Klaipeda Hospital (LT), Medicover Genetics (Cyprus)
Good health and well-being
Openalex Percentile: Top 30%
Lung Cancer Treatments and Mutations
0.42
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