切换至 "中华医学电子期刊资源库"

中华神经创伤外科电子杂志 ›› 2018, Vol. 04 ›› Issue (02) : 73 -76. doi: 10.3877/cma.j.issn.2095-9141.2018.02.003

所属专题: 文献

临床研究

人脑胶质瘤IDH1基因突变与临床病理类别的关系
谭国伟1, 陈曦1, 孙金莉2, 陈四方1, 郭剑峰1, 王占祥1,()   
  1. 1. 361003 厦门,厦门大学附属第一医院神经外科
    2. 361003 厦门,厦门大学附属第一医院生殖医学科
  • 收稿日期:2017-12-20 出版日期:2018-04-15
  • 通信作者: 王占祥
  • 基金资助:
    福建省医药卫生科技创新项目(2014-CXB-36)

Relationship between IDH1 mutation and clinic pathologic features in human gliomas

Guowei Tan1, Xi Chen1, Jinli Sun2, Sifang Chen1, Jianfeng Guo1, Zhanxiang Wang1,()   

  1. 1. Department of Neurosurgery, The First Affiliated Hospital of Xiamen University, Xiamen 361003, China
    2. Department of Reproduction, The First Affiliated Hospital of Xiamen University, Xiamen 361003, China
  • Received:2017-12-20 Published:2018-04-15
  • Corresponding author: Zhanxiang Wang
  • About author:
    Corresponding author: Wang Zhanxiang, Email:
引用本文:

谭国伟, 陈曦, 孙金莉, 陈四方, 郭剑峰, 王占祥. 人脑胶质瘤IDH1基因突变与临床病理类别的关系[J]. 中华神经创伤外科电子杂志, 2018, 04(02): 73-76.

Guowei Tan, Xi Chen, Jinli Sun, Sifang Chen, Jianfeng Guo, Zhanxiang Wang. Relationship between IDH1 mutation and clinic pathologic features in human gliomas[J]. Chinese Journal of Neurotraumatic Surgery(Electronic Edition), 2018, 04(02): 73-76.

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 grade Ⅱ and Ⅲ gliomas. IDH1 gene mutation plays important role in the development and progression of glioma.

表1 各种病理类型胶质瘤标本IDH1基因突变情况及年龄分布
表2 原发及继发性胶质母细胞瘤标本IDH1基因突变率
[1]
Turkalp Z,Karamchandani J,Das S. IDH mutation in glioma: new insights and promises for the future[J]. JAMA Neurol, 2014, 71(10): 1319-1325.
[2]
Eckel-Passow JE,Lachance DH,Molinaro AM, et al. Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors[J]. N Engl J Med, 2015, 372(26): 2499-508.
[3]
Pesenti C,Paganini L,Fontana L, et al. Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status[J]. Oncotarget, 2017, 8(34): 57134-57148.
[4]
Mu L,Xu W,Li Q, et al. IDH1 R132H mutation is accompanied with malignant progression of paired primary-recurrent astrocytic tumours[J]. J Cancer, 2017, 8(14): 2704-2712.
[5]
Zhao S,Lin Y,Xu W, et al. Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha[J]. Science, 2009, 324(5924): 261-265.
[6]
Yalaza C,Ak H,Cagli MS, et al. R132H Mutation in IDH1 Gene is associated with increased tumor HIF1-alpha and serum VEGF levels in primary glioblastoma multiforme[J]. Ann Clin Lab Sci, 2017, 47(3): 362-364.
[7]
Yan H,Parsons DW,Jin G, et al. IDH1 and IDH2 mutations in gliomas[J]. N Engl J Med, 2009, 360(8): 765-773.
[8]
Turcan S,Rohle D,Goenka A, et al. IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype[J]. Nature, 2012, 483(7390): 479-483.
[9]
Dimitrov L,Hong CS,Yang C, et al. New developments in the pathogenesis and therapeutic targeting of the IDH1 mutation in glioma[J]. Int J Med Sci, 2015, 12(3): 201-213.
[10]
王国良,赛克,公方和,等.异柠檬酸脱氢酶1基因突变增加胶质瘤细胞对替莫唑胺的敏感性[J].中国临床神经外科杂志, 2014, 19(2): 95-98.
[11]
Chen N,Yu T,Gong J, et al. IDH1/2 gene hotspot mutations in central nervous system tumours: analysis of 922 Chinese patients[J]. Pathology, 2016, 48(7): 675-683.
[12]
Lopci E,Riva M,Olivari L, et al. Prognostic value of molecular and imaging biomarkers in patients with supratentorial glioma[J]. Eur J Nucl Med Mol Imaging, 2017, 44(7): 1155-1164.
[13]
Opoku-Darko M,Lang ST,Artindale J, et al. Surgical management of incidentally discovered diffusely infiltrating low-grade glioma[J]. J Neurosurg, 2017, Epub ahead of print.
[14]
Gessler F,Zappi J,Konczalla J, et al. Secondary glioblastoma: molecular and clinical factors that affect outcome after malignant progression of a lower grade tumor[J]. World Neurosurg, 2017, 102: 49-55.
[15]
Yang Y,Mao Q,Wang X, et al. An analysis of 170 glioma patients and systematic review to investigate the association between IDH-1 mutations and preoperative glioma-related epilepsy[J]. J Clin Neurosci, 2016, 31: 56-62.
[1] 王晗宇, 张司可, 张羽, 万欣, 贺秋霞, 李明明, 杨秀华. 超声造影在脑胶质瘤切除术术中的应用价值[J]. 中华医学超声杂志(电子版), 2023, 20(07): 755-760.
[2] 庞嘉越成, 巨淑慧, 马冀青, 李恒宇, 盛湲. 乳腺癌易感基因突变人群接受降低乳腺癌风险手术的研究进展[J]. 中华乳腺病杂志(电子版), 2023, 17(03): 179-183.
[3] 巨淑慧, 庞嘉越成, 皮浩, 蒋英杰, 李恒宇, 盛湲. ESR1基因突变在雌激素受体阳性转移性乳腺癌中的研究进展[J]. 中华乳腺病杂志(电子版), 2023, 17(01): 40-43.
[4] 陈甜甜, 王晓东, 余海燕. 双胎妊娠合并Gitelman综合征孕妇的妊娠结局及文献复习[J]. 中华妇幼临床医学杂志(电子版), 2023, 19(05): 559-568.
[5] 阚路兰, 田茂强, 唐一蜜. 以腹痛为首发症状的轻型Gitelman综合征患儿1例及文献复习[J]. 中华妇幼临床医学杂志(电子版), 2023, 19(04): 473-479.
[6] 张小曼, 马筱秋, 许正锯, 张纯瑜, 何彩婷. 乙型肝炎病毒逆转录酶区耐药突变对血清乙型肝炎病毒表面抗原水平的影响[J]. 中华实验和临床感染病杂志(电子版), 2023, 17(05): 324-332.
[7] 袁育韬, 邢金琳, 谢克飞, 殷凯. CT征象及BRAFV600E基因突变与甲状腺乳头状癌中央区淋巴结转移的相关性[J]. 中华普外科手术学杂志(电子版), 2023, 17(06): 611-614.
[8] 杨晓健, 张炎, 冯嘉荣, 刘卓杰, 张浩. 先天性输精管缺如合并肾脏畸形三例CFTR基因突变检测并文献复习[J]. 中华腔镜泌尿外科杂志(电子版), 2023, 17(02): 110-113.
[9] 汪涛, 朱浩雨, 卜青松, 胡磊, 王文娟, 方阮, 刘啸峰. 非小细胞肺癌EGFR突变状态与CT特征的相关性[J]. 中华肺部疾病杂志(电子版), 2023, 16(01): 51-54.
[10] 陈润芝, 杨东梅, 徐慧婷. 信迪利单抗联合索凡替尼后线治疗MSS型BRAF突变的转移性结肠癌:个案报道并文献复习[J]. 中华结直肠疾病电子杂志, 2023, 12(05): 431-435.
[11] 程亚飞, 任长远, 李海马, 孙恺, 马亚群. FSTL1基因在胶质瘤发展中作用的研究[J]. 中华神经创伤外科电子杂志, 2023, 09(04): 206-215.
[12] 冯海涛, 徐涛, 刘文阳, 孙晨, 曹尚超. 三维动脉自旋标记联合动态对比增强MRI对脑胶质瘤术后复发及放射性脑坏死诊断的研究[J]. 中华消化病与影像杂志(电子版), 2023, 13(04): 262-265.
[13] 张懿炜, 胡亚欣, 出良钊, 严昭, 曾茜, 蒲茜. CREB3通过下调FAK磷酸化水平抑制胶质瘤细胞增殖及侵袭转移的体外实验研究[J]. 中华临床医师杂志(电子版), 2023, 17(02): 202-209.
[14] 王倩, 王永萍, 李新培, 杨成艳, 许慧, 孙凤娟, 刘亚平. 伴基因突变的低钾血症诊断学特征分析[J]. 中华诊断学电子杂志, 2023, 11(02): 115-119.
[15] 滕振, 闫波. 转录因子HAND1基因多态性在心血管疾病中的研究进展[J]. 中华诊断学电子杂志, 2023, 11(01): 5-11.
阅读次数
全文


摘要