人脑胶质瘤IDH1基因突变与临床病理类别的关系  

Relationship between IDH1 mutation and clinic pathologic features in human gliomas

作　　者：谭国伟[1] 陈曦[1] 孙金莉[2] 陈四方[1] 郭剑峰[1] 王占祥[1] Tan Guowei;Chen Xi;Sun Jinli;Chen Sifang;Guo Jianfeng;Wang Zhanxiang(Department of Neurosurgery,The First Affiliated Hospital of Xiamen University,Xiamen 361003,China;Department of Reproduction,The First Affiliated Hospital of Xiamen University,Xiamen 361003,China)

机构地区：[1]厦门大学附属第一医院神经外科,厦门361003 [2]厦门大学附属第一医院生殖医学科,厦门361003

出　　处：《中华神经创伤外科电子杂志》2018年第2期73-76,共4页Chinese Journal Of Neurotraumatic Surgery：Electronic Edition

基　　金：福建省医药卫生科技创新项目(2014-CXB-36)

摘　　要：目的探究不同病理类型和级别的胶质瘤患者中异柠檬酸脱氢酶1(IDH1)基因突变情况及其临床意义。方法选取厦门大学附属第一医院神经外科自2014年1月至2017年9月收治并实施手术的胶质瘤患者76例,通过免疫组化检测并鉴定各病理组织样本中IDH1基因突变情况,分析不同病理类型、不同WHO级别和不同年龄患者IDH1基因突变率。结果 76例胶质瘤标本中,共检出37例IDH1基因突变,总突变率48.68%。各种病理类型突变率由高至低分别为:弥漫性星形细胞瘤(71.43%)、间变型少突星形细胞瘤(71.43%)、少突胶质瘤(66.67%)、少突星形细胞瘤(66.67%)、间变型星形细胞瘤(63.64%)、胶质母细胞瘤(34.62%)。IDH1基因突变型的年龄普遍较野生型更小,其中,弥漫性星形细胞瘤、少突星形细胞瘤、间变型星形细胞瘤、间变型少突星形细胞瘤及胶质母细胞瘤样本中,IDH1基因突变型患者平均年龄均低于野生型患者,差异具有统计学意义(P<0.05)。结论 IDH1基因突变在WHOⅡ、Ⅲ级胶质瘤中的发生率较高,并在胶质瘤的发生、发展过程中起重要作用。Objective To evaluate the frequency and Clinic Pathologic Features of isocitrate dehydrogenase 1(IDH1)gene mutation in different pathological types and different WHO grades of glioma patients.Methods The frequency of IDH1 gene mutation was detected by immunohistochemistry in 76 patients with different pathological types and WHO grades of glioma specimens,and the pathological type,WHO grades and patient age of IDH1 gene mutation were analyzed.Results Among 76 glioma patients,IDH1 gene mutation was found in 37 patients,the total mutation rate was 48.68%.Mutation rates from high to low were as below:Diffuse Astrocytoma(71.43%),Anaplastic Oligoastrocytoma(71.43%),Oligodendroglioma(66.67%),Oligoastrocytoma(66.67%),Anaplastic Astrocytoma(63.64%),Glioblastoma(34.62%).Among Diffuse Astrocytoma,Oligoastrocytoma,Anaplastic Astrocytoma,Anaplastic Oligoastrocytoma and Glioblastoma patients,IDH1 genotype patients were generally younger than wild-type ones,the difference was statistically significant.Conclusion The frequency of IDH1 gene mutation is high in WHO gradeⅡandⅢgliomas.IDH1 gene mutation plays important role in the development and progression of glioma.

关 键 词：胶质瘤 异柠檬酸脱氢酶1基因 突变 病理分型 

分 类 号：R739.41[医药卫生—肿瘤]