胶质瘤IDH1和TP53突变与LOH1p/19q的表达及意义  

Expression and significance of IDH1,TP53 mutation and LOH 1p/19q in glioma

作　　者：王君祥[1] 姜华[1] 褚荣涛[1] 曹芳[2] 赵富文[1] 周幽心[3] 冯鸣[3] 

机构地区：[1]常熟市第二人民医院神经外科,江苏省215500 [2]苏州市相城区人民医院 [3]苏州大学附属第一医院神经外科

出　　处：《江苏医药》2015年第4期423-425,F0002,共4页Jiangsu Medical Journal

基　　金：常熟市卫生局科技计划项目(CSWS201202)

摘　　要：目的探讨胶质瘤异柠檬酸脱氢酶1(IDH1)突变、TP53突变和1p/19q联合性缺失(LOH 1p/19q)的表达及其意义。方法病理组织学证实的Ⅱ-Ⅲ级胶质瘤136例,采用基因片段测序检测IDH1突变,免疫组织化学检测TP53突变,荧光原位杂交法检测LOH 1p/19q的表达。结果 136例中,IDH1突变107例,TP53突变59例,LOH 1p/19q 36例。其中,同时存在IDH1突变和TP53突变共有55例(弥漫性细胞瘤24例,间变性星形细胞瘤26例,少突星形细胞瘤3例,间变性少突星形细胞瘤2例)。同时存在IDH1突变和LOH 1p/19q共有26例(少突胶质细胞瘤13例,间变性少突胶质细胞瘤9例,少突星形细胞瘤2例,间变性少突星形细胞瘤2例)。无一例同时存在TP53突变和LOH 1p/19q。结论联合检测IDH1突变、TP53突变和LOH 1p/19q能有利于明确肿瘤分子病理分型和预后判断,可能成为未来胶质瘤基因治疗的新靶点。Objective To investigate the expressions and significance of isocitrate dehydrogenase 1（IDH1）mutation,TP53 mutation and loss of heterozygosity 1p/19q（LOH of 1p/19q）in glioma.Methods The expressions of IDH1 mutation,TP53mutation and LOH of 1p/19 q in Ⅱ-Ⅲgrade gliomas of 136 cases were detected with direct DNA sequencing,immunohistochemistry,and fluorescence in situ hybridization,respectively.Results IDH1 mutation was found in 107 of 136cases,TP53 mutation in 59 cases and LOH 1p/19 q in 36 cases.IDH1mutation combined with TP53 mutation was found in 55 cases,of whom 24 cases were with diffuse astrocytoma,26 cases with anaplastic astrocytoma,3cases with oligoastrocytoma,2cases with anaplastic oligoastrocytoma.IDH1 mutation combined with LOH 1p/19 q was found in 26 cases,of whom 13 cases were with oligodendroglioma,9cases with anaplastic oligodendroglioma,2cases with oligoastrocytoma,2cases with anaplastic oligoastrocytoma.No case was with TP53 mutation combined with LOH 1p/19 q.Conclusion Combined detection of IDH1 mutation,TP53mutation and LOH 1p/19 q can be helpful to determine the molecular subtype of glioma and predict the prognosis,which may become the new targets for gene therapy of glioma in the future.

关 键 词：胶质瘤 异柠檬酸脱氢酶1 TP53 1p/19q联合性缺失 

分 类 号：R602[医药卫生—外科学]