胶质瘤中异柠檬酸脱氢酶1突变的研究进展_West China Medical Journal

Authors：

张杰 ,  刘艳辉

Corresponding author：

刘艳辉, Email: 284928606@qq.com

Keywords：

胶质瘤; 异柠檬酸脱氢酶1; 突变

Video：

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近年来在神经胶质瘤中发现了异柠檬酸脱氢酶1（IDH1）基因的点突变。IDH1突变导致酶原有活性下降，同时获得新的将α-酮戊二酸转化为2-羟戊二酸的功能。IDH1突变在胶质瘤发生中的机制、诊断价值、预后判断和靶向治疗已得到了广泛的研究，现对其进行综述。

Citation： 张杰,刘艳辉. 胶质瘤中异柠檬酸脱氢酶1突变的研究进展. West China Medical Journal, 2012, 27(3): 466-468. doi: Copy

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28.	Ohgaki H, Kleihues P. Genetic pathways to primary and secondary glioblastoma[J]. Am J Pathol, 2007, 170(5): 1445-1453.

1. 　Louis DN, Ohgaki H, Wiestler OD, et al. The 2007 WHO classification of tumours of the central nervous system[J]. Acta Neuropathol, 2007, 114(2): 97-109.
2. 　Burger PC, Scheithauer BW, Paulus W, et al. Pilocytic astrocytoma[M]//Kleihues P, Cavenee WK. Pathology and genetics of tumours of the nervous system. Lyon: IARC Press, 2000: 45-51.
3. 　Stupp R, Mason WP, van den Bent MJ, et al. Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma[J]. N Engl J Med, 2005, 352(10): 987-996.
4. 　Wen PY, Kesari S. Malignant gliomas in adults[J]. N Engl J Med, 2008, 359(5): 492-507.
5. 　Yamanaka R. Moleeular-targeted therapy for malignantglioma[J]. Brain Nerve, 2009, 61(2): 177-178.
6. 　Parsons DW. An integrated genomic analysis of human glioblastoma multiforme[J]. Science, 2008, 321(5897): 1807-1812.
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. 　Watanabe T, Nobusawa S, Kleihues P, et al. IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas[J]. Am J Pathol, 2009, 174(4): 1149-1153.
9. 　Balss J, Meyer J, Mueller W, et al. Analysis of the IDH1 codon 132 mutation in brain tumors[J]. Acta Neuropathol, 2008, 116(6): 597-602.
10. 　Bleeker FE, Lamba S, Leenstra S, et al. IDH1 mutations at residue p.R132(IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors[J]. Hum Mutat, 2009, 30(1): 7-11.
11. 　Sonoda Y, Kumabe T, Nakamura T, et al. Analysis of IDH1 and IDH2 mutations in Japanese glioma patients[J]. Cancer Sci, 2009, 100(10): 1996-1998.
12. 　袁浩, 袁先厚, 江普查, 等. 胶质母细胞瘤与IDH1基因突变的关系[J]. 武汉大学学报(医学版), 2011, 32(2): 164-166.
13. 　施金龙. 人脑胶质瘤中IDH1基因突变及DNA甲基化调控与干细胞相关基因表达[D].上海: 复旦大学, 2010.
14. 　Heller P, Best WR, Nelson RB, et al. Clinical implications of sickle-cell trait and glucose-6-phosphate dehydrogenase deficiency in hospitalized black male patients[J]. N Engl J Med, 1979, 300(18): 1001-1005.
15. 　Lee SM, Koh HJ, Park DC, et al. Cytosolic NADP(+)-dependent isocitrate dehydrogenase status modulates oxidative damage to cells[J]. Free Radic Biol Med, 2002, 32(11): 1185-1196.
16. 　Dang L, White DW, Gross S, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate[J]. Nature, 2010, 465(7300): 966.
17. 　Xu X, Zhao J, Xu Z, et al. Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity[J]. J Biol Chem, 2004, 279(32): 33946-33957.
18. 　Ichimura K, Pearson DM, Kocialkowski S, et al. IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas[J]. Neuro Oncol, 2009, 11(4): 341-347.
19. 　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.
20. 　Xu W, Yang H, Liu Y, et al. Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases[J]. Cancer Cell, 2011, 19(1): 17-30.
21. 　Hartmann C, Hentschel B, Wick W, et al. Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas[J]. Acta Neuropathol, 2010, 120(6): 707-718.
22. 　Christensen BC, Smith AA, Zheng S, et al. DNA methylation, isocitrate dehydrogenase mutation, and survival in glioma[J]. J Natl Cancer Inst, 2011, 103(2): 143-153.
23. 　Mellai M, Piazzi A, Caldera V, et al. IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors[J]. J Neurooncol, 2011, 105(2): 345-357.
24. 　Hartmann C, Hentschel B, Tatagiba M, et al. Molecular markers in low-grade gliomas:predictive or prognostic? [J]. Clin Cancer Res, 2011, 17(13): 4588-4599.
25. 　Ducray F, Idbaih A, Wang XW, et al. Predictive and prognostic factors for gliomas[J]. Expert Rev Anticancer Ther, 2011, 11(5): 781-789.
26. 　Shibahara I, Sonoda Y, Kanamori M, et al. IDH1/2 gene status defines the prognosis and molecular profiles in patients with grade Ⅲ gliomas[J/OL]. Int J Clin Oncol, 2011, DOI: 10.1007/s10147-011-0323-2.
27. 　Ohgaki H, Dessen P, Jourde B, et al. Genetic pathways to glioblastoma: a population-based study[J]. Cancer Res, 2004, 64(19): 6892-6899.
28. 　Ohgaki H, Kleihues P. Genetic pathways to primary and secondary glioblastoma[J]. Am J Pathol, 2007, 170(5): 1445-1453.

West China Medical Journal

胶质瘤中异柠檬酸脱氢酶1突变的研究进展

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