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IDH1基因突变与胶质瘤 被引量：3

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摘要 异柠檬酸脱氢酶l(isocitrate dehydrogenase 1,IDH1)基因突变发生在肿瘤早期,研究发现:IDH1基因与胶质瘤的诊断、鉴别诊断及预后判断等密切相关。本文就IDH1基因突变与胶质瘤的关系作一综述。
作者 王国良
机构地区 广州军区广州总医院神经外科
出处 《中国微侵袭神经外科杂志》 CAS 2012年第8期379-381,共3页 Chinese Journal of Minimally Invasive Neurosurgery
关键词 神经胶质瘤 异柠檬酸脱氢酶1 基因突变 诊断 预后
分类号 R739.41 [医药卫生—肿瘤]
  • 相关文献

参考文献19

  • 1Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme [J]. Science, 2008, 321(5897): 1807-1812.
  • 2Watanabe T, Nobusawa S, Kleihues P, et O1. IDH1 muta- tions are early events in the development of astrocytomas and oligodendrogliomas [J]. Am J Pathol, 2009, 174(4): 1149-1153.
  • 3Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas [J]. N Engl J Med, 2009, 360(8): 765-773.
  • 4Hartmann C, Meyer J, Balss J, et al. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas [J]. Acta Neuropathol, 2009, 118 (4): 469- 474.
  • 5Jha P, Suri V, Sharma V, et al. IDH1 mutations in gliomas: first series from a tertiary care centre in India with comprehensive review of literature [J]. Exp Mol Pathol, 2011, 91(1): 385-393.
  • 6袁浩,袁先厚,江普查,张捷,文志华.异柠檬酸脱氢酶基因突变在神经胶质瘤发生发展中的作用[J].中华实验外科杂志,2011,28(5):737-739. 被引量：7
  • 7Sanson M, Marie Y, Paris S, et al. Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas [J]. J Clin Oncol, 2009, 27(25): 4150-4154.
  • 8Birner P, Toumangelova-Uzeir K, Natchev S, et al. Expres- sion of mutated isocitrate dehydrogenase-1 in gliomas is associated with p53 and EGFR expression [J]. Folia Neuro- pathol, 2011, 49(2): 88-93.
  • 9Metellus P, Colin C, Taieb D, etal. IDH mutation status impact on in vivo hypoxia biomarkers expression: new insights fxom a clinical, nuclear imaging and immunohisto- chemical study in 33 glioma patients [J]. J Neurooncol, 2011, 105(3): 591-600.
  • 10Dang L, White DW, Gross S, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate [J]. Nature, 2009, 462(7274): 739-744.

二级参考文献17

  • 1Parsons DW,Jones S,Zhang X,et al.An integrated genomic analysis of human glioblastoma multiform.Science,2008,321:1807-1812.
  • 2Balss J,Meyer J,Mueller W,et al.Analysis of the IDH1 codon 132 mutation in brain tumors.Acta Neuropathol,2008,116:597-602.
  • 3Yan H,Parsons DW,Jin G.IDH1 and IDH2 Mutations in Gliomas.N Engl J Med,2009,360:765-773.
  • 4Mardis EK,Ding L,Dooling DJ,et al.Recurring mutations found by sequencing an acute myeloid leukemia genome.N Engl J Med,2009,361:1058-1066.
  • 5Chou WC,Hou HA,Chen CY,et al.Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation.Blood,2010,115:2749-2754.
  • 6Zhao SM,Lin Y,Xu W,et al.Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1α.Science,2009,324:261-265.
  • 7Dang L,White DW,Gross S,et al.Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.Nature,2009,462:739-744.
  • 8Ward PS,Patel J,Wise DR,et al.The common feature of leukeia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity convertinga-ketoglutarate to 2-hydroxyglutarate.Cancer Cell,2010,17:225-234.
  • 9Latini A,Scussiato K,Rosa RB,et al.D-2-hydroxyglutaric acid induces oxidative stress in cerebral cortex of young rats.Eur J Neurosci,2003,17:2017-2022.
  • 10Korshunov A,Meyer J,Capper D.Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma.Acta Neuropathol,2009,118:401-405.

共引文献6

同被引文献23

  • 1Pei-Dong Li,Xin Jun Wang,Qiao Shan,Yue-Hui Wu,Zhen Wang.Evaluation of TAZ expression and its effect on tumor invasion and metastasis in human glioma[J].Asian Pacific Journal of Tropical Medicine,2014,7(10):757-760. 被引量：2
  • 2Parsons DW, Jones S, Zhang X, et ol. An integrated genq mic analysis of human glioblastoma multiforme [J]. Scienc 2008, 321(5897): 1807-1812.
  • 3Louis DN, Ohgaki H, Wiestler OD, et ol. The 2007 WHO classification of tumours of the central nervous system [J]. Acta Neuropathol, 2007, 114(2): 97-109.
  • 4Capper D, Zentgraf H, Balss J, et O1. Monoclonal antibody specific for IDH1 R132H mutation [J]. Acta Neuropathol, 2009, 118(5): 599-601.
  • 5Capper D, Sahm F, Hartmann C, et ol. Application of mutant IDH1 antibody to differentiate diffuse glioma from normeoplastic central nervous system lesions and therapy- induced changes [J]. Am J Surg Pathol, 2010, 34(8): 1199- 1204.
  • 6Watanabe T, Nobusawa S, Kleihues P, et ol. IDH1 muta- tions are early events in the development of astrocytomas and oligodendrogliomas [J]. Am J Pathol, 2009, 174(4): 1149-1153.
  • 7Sanson M, Marie Y, Paris S, et al. Isocitrate dehydrogenase 1 cod0n 132 mutation is an important prognostic biomarker in gliomas [J]. J Clin Oncol, 2009, 27(25): 4150-4154.
  • 8Jha P, Suri V, Sharma V, et al. IDH1 mutations in gliomas: first series from a tertiary care centre in India with comprehensive review of literature [J]. Exp Mol Pathol, 2011, 91(1): 385-393.
  • 9Yah H, Parsons DW, Jin G, et O1:IDH1 and IDH2 muta- tions in gliomas [J]. N Engl J Med, 2009, 360(8): 765-773.
  • 10Hartmarm C, Meyer J, Balss J, et ol. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas [J]. Acta Neuropathol, 2009, 118(4): 469-474.

引证文献3

二级引证文献12

中国微侵袭神经外科杂志
2012年 第8期

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