Objectives: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.Methods: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).Results: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 (p= 0.088).Conclusions: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.
目的：本研究旨在评估新一代测序技术作为日益普及且具有优势的工具，对胶质母细胞瘤患者的临床影响。方法：纳入2010年至2021年间接受手术治疗的65岁以下成年胶质母细胞瘤患者。采用Oncomine Comprehensive v3测序面板和Ion Reporter Genexus v5.9.1分析系统对肿瘤样本进行新一代测序分析。结果：共纳入32例患者，中位年龄47.7岁，中位总生存期25个月。新一代测序技术检测到的基因突变导致两例患者诊断发生改变。除一例外，所有患者均检测到至少一种基因变异（中位数每例患者3个），其中EGFR扩增最为常见。93.7%的患者检测到可能符合临床试验资格的分子标志物。尽管观察到无CDK4突变患者生存期延长的趋势（p=0.088），但基因变异与生存期差异无统计学关联。结论：新一代测序技术为诊断提供重要信息，尤其对年轻患者具有临床价值。随着更多治疗靶点和疗法的出现，该技术有望成为临床决策的重要依据，目前对推动科研进展具有关键意义。
Clinical Impact of a Next-Generation Sequencing Approach for Glioblastoma Patients
肿瘤(癌症)患者之家