Gaal Orsolya I, Ungureanu Andrei, Pop Bogdan, Tomescu Andreea, Cătană Andreea, Man Milena, Râjnoveanu Ruxandra Mioara, Palade Emanuel, Simon Marioara, Luchian Stefan Dan, Kubelac Milan Paul, Fulop Annamaria, Fekete Zsolt, Ciuleanu Tudor Eliade, Jentimir Ion, Popovici Bogdan, Cainap Calin, Preda Alexandra Cristina, Magdau Cosmina, Lesan Andrei, Fetica Bogdan
Department of Molecular Sciences, Medical Genetics, "Iuliu Hatieganu" University of Medicine and Pharmacy, 400006 Cluj-Napoca, Romania.
Department of Genetic Explorations, "Prof. Dr. Ion Chiricuta" Institute of Oncology, 400015 Cluj-Napoca, Romania.
Cancers (Basel). 2025 Jun 11;17(12):1947. doi: 10.3390/cancers17121947.
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.
全面的分子谱分析对于非小细胞肺癌（NSCLC）的精准肿瘤学至关重要。然而，来自包括罗马尼亚在内的东欧人群的基因组数据仍然有限。我们使用Ion Torrent™ Genexus™系统和Oncomine™ Dx Target Test对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）检测的398例连续NSCLC病例进行了分析，该检测评估了来自福尔马林固定石蜡包埋（FFPE）样本中46个基因的单核苷酸变异/插入缺失（SNVs/indels）、23个基因的融合以及19个基因的拷贝数变异（CNVs）。该队列主要为男性（66%），中位年龄为67岁。腺癌占已知组织学病例的70%。基因组谱分析显示可操作改变的频率很高。KRAS突变最为常见（29.1%），在所有病例中有10.3%检测到p.G12C。EGFR突变存在于14.3%的患者中，主要是外显子19缺失和L858R替代。BRAF改变（5.3%）包括V600E和非V600E变体。RET改变检测为8个错义突变、2个典型融合（-，-）、1个扩增和3个转录本失衡。还观察到NTRK融合（1.77%）、ALK突变/扩增（3.0%）和MET扩增。这项研究提供了罗马尼亚NSCLC的首个大规模分子概况。虽然总体基因组谱与西方人群一致，但KRAS p.G12C和MET扩增的较高频率突出了区域特异性数据对支持东欧靶向治疗的价值。
