摘要
目的分析成人丘脑胶质瘤与成人脑干胶质瘤分子遗传特征的差异,为成人丘脑胶质瘤精准诊疗提供依据。方法收集19例成人丘脑胶质瘤及9例成人脑干胶质瘤的肿瘤组织样本,采用二代测序技术(NGS)检测425个肿瘤相关基因,分析成人丘脑胶质瘤与成人脑干胶质瘤的基因点突变、基因拷贝数变异等分子遗传特征及差异。结果在收集的标本中,成人丘脑及脑干的弥漫中线胶质瘤发生率差异无统计学意义(P>0.05),但丘脑更易发生胶质母细胞瘤(P=0.026)。成人丘脑胶质瘤TP53突变、TERT启动子突变、CDK4/6扩增、PTEN突变、EGFR扩增比例高于成人脑干胶质瘤,H3K27M突变、IDH1突变、MCL1扩增、NF1突变、ATRX突变、FAT1突变比例低于脑干胶质瘤,其中TERT启动子突变比例在两者中有显著差异(P=0.026);成人丘脑胶质瘤中发生PI3K信号通路激活比例显著高于成人脑干胶质瘤(P=0.016)。单因素分析结果显示成人丘脑胶质瘤中TP53突变(P=0.01)、CDK4/6扩增(P=0.02)、EGFR扩增(P=0.04)和ARID1A(P=0.048)突变均与患者低生存显著相关,而成人脑干胶质瘤中FAT1突变(P=0.024)和MCL1扩增(P=0.017)与患者低生存显著相关。结论成人丘脑较脑干更易发生胶质母细胞瘤,而且二者分子遗传特征也存在明显差异,提示成人丘脑胶质瘤是不同于成人脑干胶质瘤的一类具特殊遗传肿瘤谱的肿瘤。
Objective To analyze the differences in molecular genetic characteristics between adult thalamic gliomas and brainstem gliomas to provide a basis for accurate diagnosis and treatment of adult thalamic gliomas.Methods The tumor tissue samples of 19 adult thalamic gliomas and 9 brainstem gliomas were collected.425 tumor-related genes were detected by next-generation sequencing(NGS).The variation in molecular genetic characteristics between adult thalamic gliomas and brainstem gliomas,such as gene point mutation and copy number variation,were analyzed.Results There was no significant difference in the incidence of diffuse midline glioma in the thalamus and brainstem of adults(P>0.05),but glioblastoma was more likely to occur in the thalamus(P=0.026).In adult thalamic gliomas,the ratio of TP53 mutation,TERT promoter mutation,CDK4/6 amplification,PTEN mutation and EGFR amplification were higher than those in adult brainstem gliomas,while the ratio of H3K27M mutation,IDH1 mutation,MCL1 amplification,NF1 mutation,ATRX mutation and FAT1 mutation were lower than those in adult brainstem gliomas.Of note,TERT promoter mutation significantly differed between adult thalamic gliomas and adult brainstem gliomas(P=0.026).The proportion of activation in PI3K signal pathway in adult thalamic gliomas was significantly higher compared to adult brainstem gliomas(P=0.016).Univariate analysis revealed that TP53 mutation(P=0.01),CDK4/6 amplification(P=0.02),EGFR amplification(P=0.04)and ARID1A(P=0.048)mutations were significantly associated with low survival in adult thalamic gliomas.In contrast,FAT1 mutation(P=0.024)and MCL1 amplification(P=0.017)were significantly associated with low survival in adult brainstem gliomas.Conclusions Glioblastoma is more likely to occur in adult thalamus than in brainstem,and there are significant differences in molecular genetic characteristics between the two,suggesting that adult thalamic glioma is a tumor with a special genetic tumor spectrum different from adult brain stem glioma.
作者
郭瑶
赖名耀
李少群
周江芬
李海南
蔡林波
GUO Yao;LAI Mingyao;LI Shaoqu;ZHOU Jiangfen;LI Hainan;CAI Linbo(Department of Oncology,First Affiliated Hospital of Jinan University,Guangzhou 510630,China;不详)
出处
《临床神经外科杂志》
2024年第3期273-279,共7页
Journal of Clinical Neurosurgery
基金
广州市科技计划基础与应用基础研究项目(202201011741)。
关键词
胶质瘤
丘脑
脑干
分子遗传
glioma
thalamic
brainstem
molecular genetics
