<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Background</h3>
<p>The mortality rate linked to non-small cell lung cancer (NSCLC) has notably decreased in recent years, primarily due to refined diagnostic techniques. This retrospective study aims to offer new insights into the frequency of EGFR gene mutations in Romanian NSCLC patients, examining potential associations or exclusions with ALK rearrangements and elevated PD-L1 expression level and seeks to contribute crucial insights into molecular marker alterations associated with NSCLC, advancing our understanding of targeted therapy prospects for oncology patients diagnosed with NSCLC in Romania.</p>
</sec>
<sec><h3>Methods</h3>
<p>DNA was extracted from the FFPET sections using the DNA Sample Preparation kit from Roche Diagnostics while the EGFR mutation detection test was performed using Real-Time PCR methods. PD-L1 expression levels and ALK rearrangements were immunohistochemically assessed.</p>
</sec>
<sec><h3>Results</h3>
<p>Among the 453 patients, 42 displayed EGFR gene mutations. The most prevalent mutation was Ex19Del, observed in 3.5% of cases, followed by the L858R substitution (2.9%). A noticeable elevation of PD-L1 expression level was observed on average when comparing patients EGFR Wild-Type with patients with EGFR gene mutations (40.37% versus 26.13%). The association of the L858R mutation and positive ALK was observed in one patient in our study cohort.</p>
</sec>
<sec><h3>Conclusions</h3>
<p>The study reveals a significantly higher prevalence of EGFR gene mutations among females and non-smokers. EGFR mutations were exclusively identified in patients with lung adenocarcinoma. This study data act as a catalyst for future investigations into resistance mechanisms to anti-EGFR TKIs in NSCLC patients in Romania and the prevalence of EGFR gene mutations associated with this phenomenon.</p>
</sec>
</abstract>

Background
The mortality rate linked to non-small cell lung cancer (NSCLC) has notably decreased in recent years, primarily due to refined diagnostic techniques. This retrospective study aims to offer new insights into the frequency of EGFR gene mutations in Romanian NSCLC patients, examining potential associations or exclusions with ALK rearrangements and elevated PD-L1 expression level and seeks to contribute crucial insights into molecular marker alterations associated with NSCLC, advancing our understanding of targeted therapy prospects for oncology patients diagnosed with NSCLC in Romania.

Methods
DNA was extracted from the FFPET sections using the DNA Sample Preparation kit from Roche Diagnostics while the EGFR mutation detection test was performed using Real-Time PCR methods. PD-L1 expression levels and ALK rearrangements were immunohistochemically assessed.

Results
Among the 453 patients, 42 displayed EGFR gene mutations. The most prevalent mutation was Ex19Del, observed in 3.5% of cases, followed by the L858R substitution (2.9%). A noticeable elevation of PD-L1 expression level was observed on average when comparing patients EGFR Wild-Type with patients with EGFR gene mutations (40.37% versus 26.13%). The association of the L858R mutation and positive ALK was observed in one patient in our study cohort.

Conclusions
The study reveals a significantly higher prevalence of EGFR gene mutations among females and non-smokers. EGFR mutations were exclusively identified in patients with lung adenocarcinoma. This study data act as a catalyst for future investigations into resistance mechanisms to anti-EGFR TKIs in NSCLC patients in Romania and the prevalence of EGFR gene mutations associated with this phenomenon.

The frequency of EGFR gene mutations in a cohort of Romanian patients with non-small cell lung cancer and their association with PD-L1 expression level and ALK rearrangements

Department of Genetics, Faculty of Biology

Department of Molecular Biology and Genetics

Revista Romana de Medicina de Laborator

This work is licensed under the Creative Commons Attribution 4.0 International License.

Background
The mortality rate linked to non-small cell lung cancer (NSCLC) has notably decreased in recent years, primarily due to refined diagnostic...

The frequency of EGFR gene mutations in a cohort of Romanian patients with non-small cell lung cancer and their association with PD-L1 expression level and ALK rearrangements

Published Online: Jul 31, 2024

Page range: 237 - 244

Received: Apr 25, 2024

Accepted: Jun 05, 2024

DOI: https://doi.org/10.2478/rrlm-2024-0020

Keywords
ALK, EGFR gene, NSCLC, PD-L1, Real-Time PCR

© 2024 Ester-Andreea Cohn et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

The frequency of EGFR gene mutations in a cohort of Romanian patients with non-small cell lung cancer and their association with PD-L1 expression level and ALK rearrangements

Published Online: Jul 31, 2024

Page range: 237 - 244

Received: Apr 25, 2024

Accepted: Jun 05, 2024

DOI: https://doi.org/10.2478/rrlm-2024-0020

KeywordsALK, EGFR gene, NSCLC, PD-L1, Real-Time PCR

© 2024 Ester-Andreea Cohn et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Keywords
ALK, EGFR gene, NSCLC, PD-L1, Real-Time PCR