Iurca Ioana, Isakescu Ecaterina, Pop Laura Ancuta, Budisan Liviuta, Pirlog Radu, Harangus Antonia, Ciuleanu Tudor Eliade, Braicu Cornelia, Berindan-Neagoe Ioana
Research Center for Functional Genomics, Biomedicine and Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
County Hospital Baia-Mare, Baia -Mare, Romania.
Med Pharm Rep. 2024 Jul;97(3):298-307. doi: 10.15386/mpr-2763. Epub 2024 Jul 30.
Lung cancer remains one of the most threatening malignancies, ranking as the second most diagnosed cancer, and it continues to be the leading cause of cancer-related deaths worldwide. Challenges persist with late diagnosis and the high mutational burden characteristic of lung cancer.
Our study focuses on identifying the mutational spectrum of a cohort of advanced-stage non-small cell lung cancer (NSCLC) patients using a minimally invasive method through blood collection. To analyze the mutational landscape of these patients, we employed plasma DNA for the next-generation sequencing (NGS) cancer panel Ion Torrent, which contains 50 of the most mutated genes in lung cancer. All protocols for extraction, quality and quantity control, and library preparation follow the manufacturer's rules. Bioinformatics analysis was performed to select pathogenic mutations versus non-pathogenic-benign ones.
This approach is particularly valuable for patients in advanced stages (III and IV, n=10) of lung adenocarcinoma and lung squamous cell carcinoma, who lack surgical options and limited therapeutic avenues. The comprehensive sequencing analysis revealed that nine of the ten lung cancer patients carried a TP53 mutation. Also, several other mutations exist in various cases, showing heterogeneous profiling.
Our findings demonstrate the potential of liquid biopsies in providing crucial genetic insights that can guide personalized treatment strategies, improving the management and outcomes for patients with advanced lung cancer.
肺癌仍然是最具威胁性的恶性肿瘤之一，是第二大最常被诊断出的癌症，并且持续是全球癌症相关死亡的主要原因。肺癌的晚期诊断以及高突变负荷特征所带来的挑战依然存在。
我们的研究聚焦于通过微创采血方法来确定一组晚期非小细胞肺癌（NSCLC）患者的突变谱。为了分析这些患者的突变情况，我们使用血浆DNA进行下一代测序（NGS）癌症检测板Ion Torrent检测，该检测板包含肺癌中50个最易发生突变的基因。所有提取、质量和数量控制以及文库制备的方案均遵循制造商的规定。进行生物信息学分析以区分致病突变和非致病良性突变。
这种方法对于缺乏手术选择且治疗途径有限的晚期（III期和IV期，n = 10）肺腺癌和肺鳞状细胞癌患者特别有价值。全面的测序分析显示，十名肺癌患者中有九名携带TP53突变。此外，在不同病例中还存在其他几种突变，呈现出异质性特征。
我们的研究结果证明了液体活检在提供关键基因见解方面的潜力，这些见解可以指导个性化治疗策略，改善晚期肺癌患者的管理和治疗结果。
