Background/Objectives: Lung cancer remains among the most frequently diagnosed malignancies in Romania, with a high mortality rate. BeyondEGFRmutations, clinically relevant genetic alterations in non-small cell lung cancer (NSCLC) include fusions involvingALK,ROS1,RET, andNTRK1/2/3. This study aimed to determine the prevalence of these mutations in a Romanian cohort and evaluate their associations with clinicopathological features.Methods: DNA and RNA were simultaneously extracted from formalin-fixed, paraffin-embedded (FFPE) tissue sections using the Genexus Purification System (ThermoFisher Scientific). Concentrations were quantified fluorometrically, and gene fusions were analyzed with Ion Torrent NGS (Ion GeneStudio S5) with the Oncomine Focus Assay (ThermoFisher Scientific). Library preparation was automated with the Ion Chef System, and data interpretation was conducted using Ion Reporter.Results: Among 721 newly diagnosed NSCLC patients, 28 (3.88%) harbored gene fusions. Adenocarcinoma prevailed among fusion-positive cases (85.7%). The subgroup included 15 males and 13 females, with a mean age of 63.25 years (range 43–83).ALKfusions were most frequent (1.66% of the cohort; 42.86% of positives), predominantlyEML4::ALK.ROS1fusions were detected in five patients (0.7%), most frequentlyCD74::ROS1.RETfusions occurred in 1.11%. Rare fusions included oneETV6::NTRK3, onePTPRZ1::MET, and oneFGFR3::TACC3co-occurring withEGFR L858R.Conclusions: Gene fusions were present in a minority of NSCLC cases, withALK,ROS1, andRETbeing the most clinically relevant. These alterations were mutually exclusive with common drivers such asEGFRorKRAS. Detection of rare fusions highlights the therapeutic potential of comprehensive NGS profiling in Romanian NSCLC patients.
背景/目的：肺癌在罗马尼亚仍属高发恶性肿瘤，死亡率居高不下。除EGFR突变外，非小细胞肺癌（NSCLC）中具有临床意义的基因变异还包括涉及ALK、ROS1、RET及NTRK1/2/3的基因融合。本研究旨在确定罗马尼亚人群中这些基因变异的流行率，并评估其与临床病理特征的相关性。 方法：采用Genexus纯化系统（赛默飞世尔科技）从福尔马林固定石蜡包埋（FFPE）组织切片中同步提取DNA和RNA。通过荧光定量法测定浓度，使用Ion Torrent NGS平台（Ion GeneStudio S5）配合Oncomine Focus检测试剂盒（赛默飞世尔科技）进行基因融合分析。文库构建通过Ion Chef系统自动化完成，数据解读采用Ion Reporter软件。 结果：在721例新诊断的NSCLC患者中，28例（3.88%）检出基因融合。融合阳性病例以腺癌为主（85.7%）。该亚组包括15例男性和13例女性，平均年龄63.25岁（范围43-83岁）。ALK融合最为常见（占队列1.66%，占阳性病例42.86%），主要为EML4::ALK融合。5例患者（0.7%）检出ROS1融合，其中CD74::ROS1最为常见。RET融合发生率为1.11%。罕见融合包括1例ETV6::NTRK3、1例PTPRZ1::MET以及1例FGFR3::TACC3与EGFR L858R共现。 结论：基因融合仅存在于少数NSCLC病例中，其中ALK、ROS1和RET融合最具临床意义。这些变异与EGFR或KRAS等常见驱动突变互斥。罕见融合的检出凸显了全面NGS检测对罗马尼亚NSCLC患者的治疗指导价值。
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