发生全身转移的成人胶质母细胞瘤临床及分子病理特征:个体数据汇总分析  

Clinical and molecular pathology characteristics of extraneural systemic metastasis of adult cerebral glioblastoma:a pooled individual patient data analysis

作　　者：曾令成[1] 厉华 陈如东 杨洪宽 陈坚[1] 闵晓黎[2] 于加省 ZENG Lingcheng;LI Hua;CHEN Rudong;YANG Hongkuan;CHEN Jian;MIN Xiaoli;YU Jiasheng(Department of Neurosurgery,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院神经外科,武汉430030 [2]昆明医科大学第二附属医院脑血管病科

出　　处：《临床神经外科杂志》2024年第5期488-494,共7页Journal of Clinical Neurosurgery

基　　金：云南省科技重点研发项目(202203AC100007)。

摘　　要：目的评估成人胶质母细胞瘤(GBM)脑脊髓神经轴外全身转移的临床及分子病理特征。方法在“PubMed”“Embase”和“Web of Science”数据库中检索截至2023年12月31日报道的发生全身转移的成人GBM病例,收集汇总其临床特征,同时汇总分析报道的分子病理结果以评估转移发生的可能机制。结果通过数据库检索纳入1928年-2023年的113篇文献,共147例全身转移病例。男性多于女性,男女比例为2.3∶1;中位年龄45岁;转移灶几乎可见于全身各个部位,其中常见的转移部位为骨、肺及淋巴结;自GBM初次诊断至转移发生的中位间隔约10个月;自转移发生至患者死亡的中位间隔约4.5个月;中位总体生存约14.8个月。多因素分析显示年龄≤40岁、全切除以及未合并颅内复发与患者生存显著正相关。约39例患者(39/147,26.5%)报道了基因检测的结果。不同的研究所检测的基因项目存在区别,而且不同病例之间检测的基因结果呈现明显异质性。从报道的数量及阳性比例来看,异柠檬酸脱氢酶(IDH)野生型(阳性率27/30)、TERT启动子突变(阳性率11/13)、PTEN突变(阳性率10/11)、TP53突变(阳性率10/13)和RB1突变(阳性率8/9)为相对常见的基因突变。结论成人GBM脑脊髓神经轴外全身转移罕见,年轻患者相对多见,颅内病变的复发或进展仍为决定患者生存的关键因素。转移的发生应为多克隆基因突变进展的结果,其中,促增殖、促侵袭类基因改变例如癌基因或抑癌基因突变以及上皮间质转化类相关基因可能发挥了重要作用。Objective To evaluate the clinical and molecular pathology characteristics of systemic metastasis of glioblastoma(GBM).Methods Literature about adult GBM patients with systemic metastasis published before December 31,2023 were searched in“PubMed”,“Embase”and“Web of Science”,and the patients clinical data were collected.The molecular pathology results were summarized to evaluate the mechanism.Results One hundred and forty-seven GBM patients with metastasis in 113 papers published from 1928 to 2023 were included.There were more males than females and the ratio was about 2.3∶1.Median age was 45 years.Metastasis occurred in almost all parts of the body and mostly involved organs included bone,lung and lymph nodes.The median interval from initial diagnosis of GBM to the occurrence of metastasis was about 10 months.The median interval from metastasis to patient death was about 4.5 months.The median overall survival was about 14.8 months.Multivariate analysis showed age≤40 years,total resection and no intracranial recurrence were significantly positively correlated with patient survival.About 39 patients(39/147,26.5%)reported the results of genetic testing.There were differences in the gene projects detected by different research institutes,and the gene results detected between different cases showed significant heterogeneity.According to the frequency and positive ratio,isocitrate dehydrogenase(IDH)wild type(positive rate 27/30),TERT promoter mutation(11/13),PTEN mutation(10/11),TP53 mutation(10/13)and RB1 mutation(8/9)were common gene changes.Conclusions The extraneural systemic metastasis of adult cerebral GBM is rare,relatively common in young patients,and the intracranial recurrence or progression of GBM is still a key factor in determining patient survival.The occurrence of transfer should be the result of the progression of polyclonal gene mutations.Proliferation and invasion related gene changes,such as oncogene or tumour suppressor gene mutations and epithelial-mesenchymal transition-related gen

关 键 词：胶质母细胞瘤 全身转移 临床特征 分子病理 

分 类 号：R739.41[医药卫生—肿瘤]