IDH1/2 mutations in gliomas

Brain and Nerve

Volumn 63, Issue 12, 2011, Pages 1378-1386

  Nobusawa, Sumihito ^a   Yokoo, Hideaki ^a  

^a GUNMA UNIVERSITY   (Japan)

Author keywords

Brain tumor; Glioblastoma; Glioma; IDH1 2 mutation

Indexed keywords

2 OXOGLUTARIC ACID; ISOCITRATE DEHYDROGENASE; NADP DEPENDENT ISOCITRATE DEHYDROGENASE 1; NADP DEPENDENT ISOCITRATE DEHYDROGENASE 2; UNCLASSIFIED DRUG;

ARTICLE; CATALYSIS; CODON; DECARBOXYLATION; DISEASE SEVERITY; GENE MUTATION; GLIOMA; HUMAN; MOLECULAR MECHANICS; PROGNOSIS;

BRAIN NEOPLASMS; GLIOMA; HUMANS; ISOCITRATE DEHYDROGENASE; MOLECULAR TARGETED THERAPY; MUTATION; NEOPLASM STAGING;

EID: 84555190021     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (67)

1. Kleihues P, Burger PC, Aldape KD, Brat DJ, Biernat W, et al.: Glioblastoma. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (eds) : WHO Classification of Tumours of the Central Nervous System, IARC, Lyon, 2007, pp33-49
2. Okamoto Y, Di Patre PL, Burkhard C, Horstmann S, Jourde B, et al.: Population-based study on incidence, survival rates, and genetic alterations of lowgrade astrocytomas and oligodendrogliomas. Acta Neuropathol 108: 49-56, 2004 (Pubitemid 38961073)
3. Ohgaki H, Kleihues P: Genetic pathways to primary and secondary glioblastoma. Am J Pathol 170: 1445-1453, 2007 (Pubitemid 47339290)
4. Fujisawa H, Reis RM, Nakamura M, Colella S, Yonekawa Y, et al.: Loss of heterozygosity on chromosome 10 is more extensive in primary (de novo) than in secondary glioblastomas. Lab Invest 80: 65-72, 2000 (Pubitemid 30067381)
5. Nakamura M, Ishida E, Shimada K, Kishi M, Nakase H, et al.: Frequent LOH on 22q12.3 and TIMP-3 inactivation occur in the progression to secondary glioblastomas. Lab Invest 85: 165-175, 2005 (Pubitemid 40208920)
6. Homma T, Fukushima T, Vaccarella S, Yonekawa Y, Di Patre PL, et al.: Correlation among pathology, genotype, and patient outcomes in glioblastoma. J Neuropathol Exp Neurol 65: 846-854, 2006 (Pubitemid 44371230)
7. Ohgaki H, Kleihues P: Genetic profile of astrocytic and oligodendroglial gliomas. Brain Tumor Pathol 28: 177-183, 2011
8. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, et al.: An integrated genomic analysis of human glioblastoma multiforme. Science 321: 1807-1812, 2008
9. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, et al.: IDH1 and IDH2 mutations in gliomas. N Engl J Med 360: 765-773, 2009
10. Balss J, Meyer J, Mueller W, Korshunov A, Hartmann C, et al.: Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol 116: 597-602, 2008
11. Ichimura K, Pearson DM, Kocialkowski S, Bäcklund LM, Chan R, et al.: IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas. Neuro Oncol 11: 341-347, 2009
12. Watanabe T, Nobusawa S, Kleihues P, Ohgaki H: IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. Am J Pathol 174: 1149-1153, 2009
13. Hartmann C, Meyer J, Balss, Capper D, Mueller W, 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. Acta Neuropathol 118: 469-474, 2009
14. Sanson M, Marie Y, Paris S, Idbaih A, Laffaire J, et al.: Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas. J Clin Oncol 27: 4150-4154, 2009
15. Sonoda Y, Kumabe T, Nakamura T, Saito R, Kanamori M, et al.: Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. Cancer Sci 100: 1996-1998, 2009
16. Nobusawa S, Watanabe T, Kleihues P, Ohgaki H: IDH1 mutations as molecular signature and predictive factor of secondary glioblastomas. Clin Cancer Res 15: 6002-6007, 2009
17. Park SW, Chung NG, Han JY, Eom HS, Lee JY, et al.: Absence of IDH2 codon 172 mutation in common human cancers. Int J Cancer 125: 2485-2486, 2009
18. Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, et al.: Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 361: 1058-1066, 2009
19. Bleeker FE, Lamba S, Leenstra S, Troost D, Hulsebos T, et al.: IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. Hum Mutat 30: 7-11, 2009
20. Ramachandran N, Colman RF: Chemical characterization of distinct subunits of pig heart DPN-specific isocitrate dehydrogenase. J Biol Chem 255: 8859-8864, 1980
21. Reitman ZJ, Yan H: Isocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolism. J Natl Cancer Inst 102: 932-941, 2101
22. Haselbeck RJ, McAlister-Henn L: Function and expression of yeast mitochondrial NAD- and NADP-specific isocitrate dehydrogenases. J Biol Chem 268: 12116-12122, 1993 (Pubitemid 23168178)
23. Joseph JW, Jensen MV, Ilkayeva O, Palmieri F, Alárcon C, et al.: The mitochondrial citrate/isocitrate carrier plays a regulatory role in glucose-stimulated insulin secretion. J Biol Chem 281: 35624-35632, 2006 (Pubitemid 46041293)
24. Minard KI, McAlister-Henn L: Dependence of peroxisomal beta-oxidation on cytosolic sources of NADPH. J Biol Chem 274: 3402-3406, 1999 (Pubitemid 29077178)
25. Lee SM, Park SY, Shin SW, Kil IS, Yang ES, et al.: Silencing of cytosolic NADP(+)-dependent isocitrate dehydrogenase by small interfering RNA enhances the sensitivity of HeLa cells toward staurosporine. Free Radic Res 43: 165-173, 2009
26. Lee SH, Jo SH, Lee SM, Koh HJ, Song H, et al.: Role of NADP+-dependent isocitrate dehydrogenase (NADP+-ICDH) on cellular defence against oxidative injury by gamma-rays. Int J Radiat Biol 80: 635-642, 2004 (Pubitemid 39468780)
27. Kil IS, Kim SY, Lee SJ, Park JW: Small interfering RNA-mediated silencing of mitochondrial NADP+-dependent isocitrate dehydrogenase enhances the sensitivity of HeLa cells toward tumour necrosis factor-alpha and anticancer drugs. Free Radic Biol Med 43: 1197-1207, 2007 (Pubitemid 47374439)
28. Yang ES, Park JW: Regulation of ethanol-induced toxicity by mitochondrial NADP(+)-dependent isocitrate dehydrogenase. Biochimie 91: 1020-1028, 2009
29. Dang L, White DW, Gross S, Bennett BD, Bittinger MA, et al.: Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462: 739-744, 2009
30. Gross S, Cairns RA, Minden MD, Driggers EM, Bittinger MA, et al.: Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med 207: 339-344, 2010
31. Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, et al.: The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17: 225-234, 2010
32. Aghili M, Zahedi F, Rafiee E, et al.: Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 91: 233-236, 2009
33. Smeitink J: Metabolism, gliomas, and IDH1. N Engl J Med 362: 1144-1145, 2010
34. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, et al.: IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 330: 336, 2010
35. Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C: Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations. Neuropathol Appl Neurobiol 37: 330-332, 2011
36. Krell D, Assoku M, Galloway M, Mulholland P, Tomlinson I, et al.: Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma. PLoS One 6: e19868, 2011
37. Zhao S, Lin Y, Xu W, Jiang W, Zha Z, et al.: Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1a. Science 324: 261-265, 2009
38. Semenza GL: Defining the role of hypoxia-inducible factor 1 in cancer biology and therapeutics. Oncogene 29: 625-634, 2010
39. Williams SC, Karajannis MA, Chiriboga L, Golfinos JG, von Deimling A, et al.: R132H-mutation of isocitrate dehydrogenase-1 is not sufficient for HIF-Iα upregulation in adult glioma. Acta Neuropathol 121: 279-281, 2011
40. Amary MF, Bacsi K, Maggiani F, Damato S, Halai D, et al.: IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. J Pathol 224: 334-343, 2011
41. Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, et al.: Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 95: 1274-1278, 2010
42. Kang MR, Kim MS, Oh JE, Kim YR, Song SY, et al.: Mutational analysis of IDH1 codon 132 in glioblastomas and other common cancers. Int J Cancer 125: 353-355, 2009
43. Sjöblom T, Jones S, Wood LD, Parsons DW, Lin J, et al.: The consensus coding sequences of human breast and colorectal cancers. Science 314: 268-274, 2006 (Pubitemid 44571966)
44. Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, et al.: Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat Genet: 1230-1234, 2008
45. Hartmann C, Hentschel B, Wick W, Capper D, Felsberg J, 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. Acta Neuropathol 120: 707-718. 2010
46. Gravendeel LA, Kloosterhof NK, Bralten LB, van Marion R, Dubbink HJ, et al.: Segregation of non-p. R132H mutations in IDH1 in distinct molecular subtypes of glioma. Hum Mutat 31: E1186-E1199, 2010
47. Watanabe T, Vital A, Nobusawa S, Kleihues P, Ohgaki H: Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. Acta Neuropathol 117: 653-656, 2009
48. Capper D, Zentgraf H, Balss J, Hartmann C, von Deimling A: Monoclonal antibody specific for IDH1 R132H mutation. Acta Neuropathol 118: 599-601, 2009
49. Capper D, Weissert S, Balss J, Habel A, Meyer J, et al.: Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. Brain Pathol 20: 245-254, 2010
50. Capper D, Sahm F, Hartmann C, Meyermann R, von Deimling A, et al.: Application of mutant IDH1 antibody to differentiate diffuse glioma from nonneoplastic central nervous system lesions and therapy-induced changes. Am J Surg Pathol 34: 1199-1204, 2010
51. Capper D, Reuss D, Schittenhelm J, Hartmann C, Bremer J, et al.: Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. Acta Neuropathol 121: 241-252, 2011
52. Watanabe T, Nakamura M, Kros JM, Burkhard C, Yonekawa Y, et al.: Phenotype versus genotype correlation in oligodendrogliomas and low-grade diffuse astrocytomas. Acta Neuropathol 103: 267-275, 2002 (Pubitemid 36075328)
53. Reifenberger G, Louis DN: Oligodendroglioma: toward molecular definitions in diagnostic neurooncology. J Neuropathol Exp Neurol 62: 111-126, 2003 (Pubitemid 36176946)
54. Ohgaki H, Kleihues P: Population-based studies on incidence, survival rates, and genetic alterations in astrocytic and oligodendroglial gliomas. J Neuropathol Exp Neurol 64: 479-489, 2005 (Pubitemid 40781150)
55. Ohgaki H, Dessen P, Jourde B, Horstmann S, Nishikawa T, et al.: Genetic pathways to glioblastoma: a population-based study. Cancer Res 64: 6892-6899, 2004 (Pubitemid 39330996)
56. Kim YH, Nobusawa S, Mittelbronn M, Paulus W, Brokinkel B, et al.: Molecular classification of low-grade diffuse gliomas. Am J Pathol 177: 2708-2714, 2010
57. Kim YH, Lachuer J, Mittelbronn M, Paulus W, Brokinkel B, et al.: Alterations in the RB1 Pathway in Low-grade Diffuse Gliomas Lacking Common Genetic Alterations. Brain Pathol 21: 645-651, 2011
58. Toedt G, Barbus S, Wolter M, Felsberg J, Tews B, et al.: Molecular signatures classify astrocytic gliomas by IDH1 mutation status. Int J Cancer 128: 1095-1103, 2011
59. Phillips HS, Kharbanda S, Chen R, Forrest WF, Soriano RH, et al.: Molecular subclasses of high-grade glioma predict prognosis, delineate a pattern of disease progression, and resemble stages in neurogenesis. Cancer Cell 9: 157-173, 2006 (Pubitemid 43357943)
60. Verhaak RG, Hoadley KA, Purdom E, Wang V, Qi Y, et al.: Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell 17: 98-110, 2010
61. Noushmehr H, Weisenberger DJ, Diefes K, Phillips HS, Pujara K, et al.: Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. Cancer Cell 17: 510-522, 2010
62. Figueroa ME, Abdel-Wahab O, Lu C, Ward PS, Patel J, et al.: Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell 18: 553-567, 2010
63. Weller M, Wick W, von Deimling A: Isocitrate dehydrogenase mutations: a challenge to traditional views on the genesis and malignant progression of gliomas. Glia 59: 1200-1204, 2011
64. Pollack IF, Hamilton RL, James CD, Finkelstein SD, Burnham J, et al.: Rarity of PTEN deletions and EGFR amplification in malignant gliomas of childhood: results from the Children's Cancer Group 945 cohort. J Neurosurg 105: 418-424, 2006 (Pubitemid 44954773)
65. Pollack IF, Finkelstein SD, Burnham J, Holmes EJ, Hamilton RL, et al.: Age and TP53 mutation frequency in childhood malignant gliomas: results in a multi-institutional cohort. Cancer Res 61: 7404-7407, 2001 (Pubitemid 32995024)
66. Pollack IF, Hamilton RL, Sobol RW, Nikiforova MN, Lyons-Weiler MA, et al.: IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology Group. Childs Nerv Syst 27: 87-94, 2011
67. Seiz M, Tuettenberg J, Meyer J, Essig M, Schmieder K, et al.: Detection of IDH1 mutations in gliomatosis cerebri, but only in tumors with additional solid component: evidence for molecular subtypes. Acta Neuropathol 120: 261-267, 2010