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二代测序方法对胶质母细胞瘤患者的临床影响

Clinical Impact of a Next-Generation Sequencing Approach for Glioblastoma Patients.

作者信息

Vivancos Sánchez Catalina, Esteban Rodríguez María Isabel, Peláez García Alberto, Taravilla-Loma Mario, Rodríguez-Domínguez Víctor, Rodríguez-Antolín Carlos, Rosas-Alonso Rocío, Losantos-García Itsaso, Isla Guerrero Alberto, Gandía-González María Luisa

机构信息

Neurosurgery Department, La Paz University Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain.

Pathology Department, La Paz University Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain.

出版信息

Cancers (Basel). 2025 Feb 22;17(5):744. doi: 10.3390/cancers17050744.

Abstract

The purpose of this study is to assess the clinical impact of next-generation sequencing (NGS), as an increasingly available and advantageous tool, for glioblastoma patients. Adult patients aged less than 65, and surgically treated for glioblastoma between 2010-2021, were included. Tumor samples were analyzed with NGS using the Oncomine Comprehensive v3 (OCA) panel and Ion Reporter Genexus v5.9.1 (Thermo Fisher Scientific). Thirty-two patients were included, with a median age of 47.7 years and a median overall survival of 25 months. Identification of mutations by NGS resulted in a change in diagnosis in two cases. In all patients but one, at least one genetic alteration was detected (median of three per patient), most commonly EGFR amplification. In 93.7% of patients, biomarkers that make them potentially eligible for a clinical trial were found. No survival differences were seen regarding genetic alterations, although a trend towards better survival for those patients without CDK4 mutation was observed ( = 0.088). The use of NGS provides useful information for diagnosis, especially in young patients, and it will probably become valuable for clinical decision-making as more therapeutic targets and treatments emerge. For the moment, it is crucial for scientific progress to happen.

摘要

本研究的目的是评估下一代测序(NGS)作为一种越来越容易获得且具有优势的工具,对胶质母细胞瘤患者的临床影响。纳入了年龄小于65岁、在2010年至2021年间接受胶质母细胞瘤手术治疗的成年患者。使用Oncomine Comprehensive v3(OCA)检测板和Ion Reporter Genexus v5.9.1(赛默飞世尔科技公司)通过NGS对肿瘤样本进行分析。共纳入32例患者,中位年龄为47.7岁,中位总生存期为25个月。通过NGS鉴定突变导致2例患者的诊断发生改变。除1例患者外,所有患者均检测到至少一种基因改变(每位患者中位数为三种),最常见的是表皮生长因子受体(EGFR)扩增。在93.7%的患者中,发现了使其有潜在资格参加临床试验的生物标志物。未观察到基因改变与生存之间存在差异,尽管观察到无细胞周期蛋白依赖性激酶4(CDK4)突变的患者有生存更好的趋势(P = 0.088)。NGS的使用为诊断提供了有用信息,尤其是在年轻患者中,并且随着更多治疗靶点和治疗方法的出现,它可能对临床决策变得有价值。目前,实现科学进展至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a118/11898826/8cde4e8cbd9c/cancers-17-00744-g001.jpg

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