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在一家公立医疗医院中,使用下一代测序进行分子检测对非小细胞肺癌患者临床管理的影响。

Impact of Molecular Testing Using Next-Generation Sequencing in the Clinical Management of Patients with Non-Small Cell Lung Cancer in a Public Healthcare Hospital.

作者信息

Simarro Javier, Pérez-Simó Gema, Mancheño Nuria, Ansotegui Emilio, Muñoz-Núñez Carlos Francisco, Gómez-Codina José, Juan Óscar, Palanca Sarai

机构信息

Molecular Biology Unit, Service of Clinical Analysis, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.

Clinical and Translational Cancer Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.

出版信息

Cancers (Basel). 2023 Mar 10;15(6):1705. doi: 10.3390/cancers15061705.

Abstract

Next-generation sequencing (NGS) is a molecular approach able to provide a comprehensive molecular profile of non-small cell lung cancer (NSCLC). The broad spectrum of biomarker-guided therapies has positioned molecular diagnostic laboratories as a central component of patient clinical management. Here, we show the results of an UNE-EN ISO 15189:2022 NGS-accredited assay in a cohort of 350 patients. (51.0%), (26.6%) and (12.9%) were the most frequently mutated genes. Furthermore, we detected co-occurring and mutually exclusive alterations, as well as distinct molecular profiles according to sex and smoking habits. Actionable genetic alterations were significantly more frequent in female patients (80.5%, < 0.001) and in never-smoker patients (87.7%, < 0.001). When NGS was established as the main molecular testing strategy, 36.4% of patients received at least one line of targeted treatment. Among 200 patients with stage IV NSCLC, first-line treatment with targeted therapies was associated with a longer progression-free survival (PFS) (13.4 months (95% CI, 10.2-16.6) ( = 0.001)). Similarly, the overall survival (OS) of patients receiving at least one targeted drug was significantly longer (26.2 months (95% CI, 11.8-40.5) ( < 0.001)). Our results show that the implementation of NGS in the public healthcare system has provided a broader application of precision medicine.

摘要

下一代测序(NGS)是一种分子方法,能够提供非小细胞肺癌(NSCLC)的全面分子图谱。生物标志物指导疗法的广泛应用已使分子诊断实验室成为患者临床管理的核心组成部分。在此,我们展示了在350名患者队列中一项获得UNE-EN ISO 15189:2022认可的NGS检测结果。(51.0%)、(26.6%)和(12.9%)是最常发生突变的基因。此外,我们还检测到了共现和互斥性改变,以及根据性别和吸烟习惯划分的不同分子图谱。可操作的基因改变在女性患者(80.5%,<0.001)和从不吸烟的患者(87.7%,<0.001)中显著更常见。当将NGS确立为主要分子检测策略时,36.4%的患者接受了至少一线靶向治疗。在200例IV期NSCLC患者中,一线接受靶向治疗与更长的无进展生存期(PFS)相关(13.4个月(95%CI,10.2 - 16.6)(=0.001))。同样,接受至少一种靶向药物治疗的患者的总生存期(OS)显著更长(26.2个月(95%CI,11.8 - 40.5)(<0.001))。我们的结果表明,在公共医疗系统中实施NGS为精准医学提供了更广泛的应用。

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