Background: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.Methods: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.Results: 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.KRASmutations were the most common (29.1%), with p.G12C detected in 10.3% of all the cases.EGFRmutations were present in 14.3% of patients, mostly exon 19 deletions and L858R substitutions.BRAFalterations (5.3%) included both V600E and non-V600E variants. RET alterations were detected as eight missense mutations, two canonical fusions (KIF5B–RET,CCDC6–RET), one amplification, and three transcript imbalances.EML4-ALKfusions (1.77%),ERBB2mutations/amplifications (3.0%), andFGFR1/FGFR3amplifications were also observed.Conclusions: 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 andFGFRamplifications highlights the value of region-specific data to support targeted therapies in Eastern Europe.
背景：全面的分子谱分析对于非小细胞肺癌（NSCLC）的精准肿瘤治疗至关重要。然而，包括罗马尼亚在内的东欧人群基因组数据仍然有限。 方法：我们分析了2024年4月至2025年2月期间在PATHOS分子病理学实验室（罗马尼亚克卢日-纳波卡）连续检测的398例NSCLC病例，使用Ion Torrent™ Genexus™系统和Oncomine™ Dx Target Test对福尔马林固定石蜡包埋（FFPE）样本进行了检测，该检测可评估46个基因的单核苷酸变异/插入缺失、23个基因的融合以及19个基因的拷贝数变异。 结果：该队列以男性为主（66%），中位年龄为67岁。在已知组织学类型的病例中，腺癌占70%。基因组谱分析显示可干预的基因改变频率较高。KRAS突变最为常见（29.1%），其中p.G12C突变在所有病例中占10.3%。EGFR突变存在于14.3%的患者中，主要为19号外显子缺失和L858R替换。BRAF改变（5.3%）包括V600E和非V600E变异。检测到的RET改变包括8个错义突变、2个典型融合（KIF5B–RET、CCDC6–RET）、1个扩增和3个转录本失衡。此外还观察到EML4-ALK融合（1.77%）、ERBB2突变/扩增（3.0%）以及FGFR1/FGFR3扩增。 结论：本研究首次提供了罗马尼亚NSCLC的大规模分子特征概览。虽然整体基因组特征与西方人群一致，但KRAS p.G12C突变和FGFR扩增频率较高，凸显了区域特异性数据对于支持东欧靶向治疗的价值。
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