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Article Abstract

Comprehensive molecular profiling is essential for precision oncology in non-small cell lung cancer (NSCLC). However, genomic data from Eastern European populations, including Romania, remain limited. We analyzed 398 consecutive NSCLC cases tested at the PATHOS Molecular Pathology Laboratory (Cluj-Napoca, Romania) between April 2024 and February 2025 using the Ion Torrent™ Genexus™ System and the Oncomine™ Dx Target Test, which evaluates SNVs/indels in 46 genes, fusions in 23 genes, and CNVs in 19 genes from FFPE samples. : The cohort was predominantly male (66%) with a median age of 67 years. Adenocarcinoma represented 70% of cases with known histology. Genomic profiling revealed a high frequency of actionable alterations. mutations were the most common (29.1%), with p.G12C detected in 10.3% of all the cases. mutations were present in 14.3% of patients, mostly exon 19 deletions and L858R substitutions. alterations (5.3%) included both V600E and non-V600E variants. RET alterations were detected as eight missense mutations, two canonical fusions (-, -), one amplification, and three transcript imbalances. fusions (1.77%), mutations/amplifications (3.0%), and amplifications were also observed. : This study provides the first large-scale molecular snapshot of NSCLC in Romania. While the overall genomic profiles align with Western populations, the higher frequency of KRAS p.G12C and amplifications highlights the value of region-specific data to support targeted therapies in Eastern Europe.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12190249PMC
http://dx.doi.org/10.3390/cancers17121947DOI Listing

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