RRML - The frequency of EGFR gene mutations in a cohort of patients from Romania and their association with PD-L1 expression level and ALK rearrangements
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Ahead of print DOI:10.2478/rrlm-2024-0020
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Research article

The frequency of EGFR gene mutations in a cohort of patients from Romania and their association with PD-L1 expression level and ALK rearrangements

Ester-Andreea Cohn, Ortansa Csutak, Ecaterina Tataru

Correspondence should be addressed to: Ester-Andreea Cohn

Abstract:

Background: The mortality rate linked to NSCLC cancer 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.

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

Received: 25.4.2024
Accepted: 5.6.2024
Published: 16.6.2024

 
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