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Volumn 56, Issue 3, 2011, Pages 379-383

Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors

Author keywords

2 hydroxyglutarate; Isocitrate dehydrogenase; Wilms tumor

Indexed keywords

2 HYDROXYGLUTARIC ACID; ISOCITRATE DEHYDROGENASE; PROTEIN IDH1; PROTEIN IDH2; UNCLASSIFIED DRUG;

EID: 78651110077     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22697     Document Type: Article
Times cited : (28)

References (45)
  • 1
    • 33645692860 scopus 로고    scopus 로고
    • D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect
    • Struys EA. D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis 2006; 29: 21-29.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 21-29
    • Struys, E.A.1
  • 3
    • 0343628796 scopus 로고    scopus 로고
    • Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria?
    • Muntau AC, Roschinger W, Merkenschlager A, et al. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 2000; 31: 137-140.
    • (2000) Neuropediatrics , vol.31 , pp. 137-140
    • Muntau, A.C.1    Roschinger, W.2    Merkenschlager, A.3
  • 4
    • 2442692808 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?
    • Moroni I, Bugiani M, D'Incerti L, et al. L-2-Hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition? Neurology 2004; 62: 1882-1884.
    • (2004) Neurology , vol.62 , pp. 1882-1884
    • Moroni, I.1    Bugiani, M.2    D'Incerti, L.3
  • 5
    • 0027236445 scopus 로고
    • L-2-Hydroxyglutaric aciduria: Three Australian cases
    • Wilcken B, Pitt J, Heath D, et al. L-2-Hydroxyglutaric aciduria: Three Australian cases. J Inherit Metab Dis 1993; 16: 501-504.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 501-504
    • Wilcken, B.1    Pitt, J.2    Heath, D.3
  • 6
    • 0030994414 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: Clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
    • Barbot C, Fineza I, Diogo L, et al. L-2-Hydroxyglutaric aciduria: Clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 1997; 19: 268-273.
    • (1997) Brain Dev , vol.19 , pp. 268-273
    • Barbot, C.1    Fineza, I.2    Diogo, L.3
  • 7
    • 0036058194 scopus 로고    scopus 로고
    • Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria
    • Ozisik PA, Akalan N, Palaoglu S, et al. Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria. Pediatr Neurosurg 2002; 37: 22-26.
    • (2002) Pediatr Neurosurg , vol.37 , pp. 22-26
    • Ozisik, P.A.1    Akalan, N.2    Palaoglu, S.3
  • 8
    • 50649109180 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: Neuroimaging findings
    • Haliloglu G, Jobard F, Oguz KK, et al. L-2-Hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: Neuroimaging findings. Neuropediatrics 2008; 39: 119-122.
    • (2008) Neuropediatrics , vol.39 , pp. 119-122
    • Haliloglu, G.1    Jobard, F.2    Oguz, K.K.3
  • 9
    • 57349166553 scopus 로고    scopus 로고
    • Hydroxyglutaric aciduria and malignant brain tumor: A case report and literature review
    • Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: A case report and literature review. J Neurooncol 2009; 91: 233-236.
    • (2009) J Neurooncol , vol.91 , pp. 233-236
    • Aghili, M.1    Zahedi, F.2    Rafiee, E.3
  • 10
    • 38449104994 scopus 로고    scopus 로고
    • Osteoma of the calvaria in L-2-hydroxyglutaric aciduria
    • Larnaout A, Amouri R, Neji S, et al. Osteoma of the calvaria in L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 2007; 30: 980.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 980
    • Larnaout, A.1    Amouri, R.2    Neji, S.3
  • 11
    • 77649305610 scopus 로고    scopus 로고
    • The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate
    • Ward PS, Patel J, Wise DR, 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 2010; 17: 225-234.
    • (2010) Cancer Cell , vol.17 , pp. 225-234
    • Ward, P.S.1    Patel, J.2    Wise, D.R.3
  • 12
    • 77149134353 scopus 로고    scopus 로고
    • Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations
    • Gross S, Cairns RA, Minden MD, et al. Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med 2010; 207: 339-344.
    • (2010) J Exp Med , vol.207 , pp. 339-344
    • Gross, S.1    Cairns, R.A.2    Minden, M.D.3
  • 13
    • 73649145880 scopus 로고    scopus 로고
    • IDH1 mutations in gliomas: When an enzyme loses its grip
    • Frezza C, Tennant DA, Gottlieb E. IDH1 mutations in gliomas: When an enzyme loses its grip. Cancer Cell 2010; 17: 7-9.
    • (2010) Cancer Cell , vol.17 , pp. 7-9
    • Frezza, C.1    Tennant, D.A.2    Gottlieb, E.3
  • 14
    • 72049125350 scopus 로고    scopus 로고
    • Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
    • Dang L, White DW, Gross S, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 2009; 462: 739-744.
    • (2009) Nature , vol.462 , pp. 739-744
    • Dang, L.1    White, D.W.2    Gross, S.3
  • 15
    • 79952277962 scopus 로고    scopus 로고
    • Wilms tumor in a child with L-2-hydroxyglutaric aciduria
    • in press. It is available at
    • Rogers RE, Deberardinis RJ, Klesse LJ, et al. Wilms tumor in a child with L-2-hydroxyglutaric aciduria. Pediatr Dev Pathol 2010; in press. It is available at
    • (2010) Pediatr Dev Pathol
    • Rogers, R.E.1    Deberardinis, R.J.2    Klesse, L.J.3
  • 16
    • 0027279451 scopus 로고
    • Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias
    • Gibson KM, ten Brink HJ, Schor DS, et al. Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 1993; 34: 277-280.
    • (1993) Pediatr Res , vol.34 , pp. 277-280
    • Gibson, K.M.1    ten Brink, H.J.2    Schor, D.S.3
  • 17
    • 29844441918 scopus 로고    scopus 로고
    • A high-performance liquid chromatography-tandem mass spectrometry method for quantitation of nitrogen-containing intracellular metabolites
    • Lu W, Kimball E, Rabinowitz JD. A high-performance liquid chromatography-tandem mass spectrometry method for quantitation of nitrogen-containing intracellular metabolites. J Am Soc Mass Spectrom 2006; 17: 37-50.
    • (2006) J Am Soc Mass Spectrom , vol.17 , pp. 37-50
    • Lu, W.1    Kimball, E.2    Rabinowitz, J.D.3
  • 18
    • 3242798206 scopus 로고    scopus 로고
    • Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride
    • Struys EA, Jansen EE, Verhoeven NM, et al. Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride. Clin Chem 2004; 50: 1391-1395.
    • (2004) Clin Chem , vol.50 , pp. 1391-1395
    • Struys, E.A.1    Jansen, E.E.2    Verhoeven, N.M.3
  • 19
    • 60849115270 scopus 로고    scopus 로고
    • IDH1 and IDH2 mutations in gliomas
    • Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360: 765-773.
    • (2009) N Engl J Med , vol.360 , pp. 765-773
    • Yan, H.1    Parsons, D.W.2    Jin, G.3
  • 20
    • 75449119103 scopus 로고    scopus 로고
    • Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms
    • Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med 2010; 362: 369-370.
    • (2010) N Engl J Med , vol.362 , pp. 369-370
    • Green, A.1    Beer, P.2
  • 21
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361: 1058-1066.
    • (2009) N Engl J Med , vol.361 , pp. 1058-1066
    • Mardis, E.R.1    Ding, L.2    Dooling, D.J.3
  • 22
    • 52949127312 scopus 로고    scopus 로고
    • An integrated genomic analysis of human glioblastoma multiforme
    • Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme. Science 2008; 321: 1807-1812.
    • (2008) Science , vol.321 , pp. 1807-1812
    • Parsons, D.W.1    Jones, S.2    Zhang, X.3
  • 23
    • 32544441880 scopus 로고    scopus 로고
    • Metabolism of gamma-hydroxybutyrate to D-2-hydroxyglutarate in mammals: Further evidence for D-2-hydroxyglutarate transhydrogenase
    • Struys EA, Verhoeven NM, Jansen EE, et al. Metabolism of gamma-hydroxybutyrate to D-2-hydroxyglutarate in mammals: Further evidence for D-2-hydroxyglutarate transhydrogenase. Metabolism 2006; 55: 353-358.
    • (2006) Metabolism , vol.55 , pp. 353-358
    • Struys, E.A.1    Verhoeven, N.M.2    Jansen, E.E.3
  • 24
    • 31644447813 scopus 로고    scopus 로고
    • Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: Relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
    • Struys EA, Verhoeven NM, Ten Brink HJ, et al. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: Relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias. J Inherit Metab Dis 2005; 28: 921-930.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 921-930
    • Struys, E.A.1    Verhoeven, N.M.2    Ten Brink, H.J.3
  • 25
    • 77955079630 scopus 로고    scopus 로고
    • An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: A genotype-phenotype study
    • Steenweg ME, Jakobs C, Errami A, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: A genotype-phenotype study. Hum Mutat 2010; 31: 380-390.
    • (2010) Hum Mutat , vol.31 , pp. 380-390
    • Steenweg, M.E.1    Jakobs, C.2    Errami, A.3
  • 26
    • 9444299151 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localized on chromosome 14q22. 1
    • Topcu M, Jobard F, Halliez S, et al. L-2-Hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localized on chromosome 14q22. 1. Hum Mol Genet 2004; 13: 2803-2811.
    • (2004) Hum Mol Genet , vol.13 , pp. 2803-2811
    • Topcu, M.1    Jobard, F.2    Halliez, S.3
  • 27
    • 10044239247 scopus 로고    scopus 로고
    • A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria
    • Rzem R, Veiga-da-Cunha M, Noel G, et al. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci USA 2004; 101: 16849-16854.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 16849-16854
    • Rzem, R.1    Veiga-da-Cunha, M.2    Noel, G.3
  • 28
    • 17844385036 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: A report of 29 patients
    • Topcu M, Aydin OF, Yalcinkaya C, et al. L-2-Hydroxyglutaric aciduria: A report of 29 patients. Turk J Pediatr 2005; 47: 1-7.
    • (2005) Turk J Pediatr , vol.47 , pp. 1-7
    • Topcu, M.1    Aydin, O.F.2    Yalcinkaya, C.3
  • 29
    • 0027255269 scopus 로고
    • L-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase
    • Barth PG, Hoffmann GF, Jaeken J, et al. L-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993; 16: 753-761.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 753-761
    • Barth, P.G.1    Hoffmann, G.F.2    Jaeken, J.3
  • 30
    • 77149173436 scopus 로고    scopus 로고
    • Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria
    • Kranendijk M, Struys EA, Gibson KM, et al. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat 2009; 31: 279-283.
    • (2009) Hum Mutat , vol.31 , pp. 279-283
    • Kranendijk, M.1    Struys, E.A.2    Gibson, K.M.3
  • 31
    • 25444454298 scopus 로고    scopus 로고
    • Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
    • Struys EA, Korman SH, Salomons GS, et al. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol 2005; 58: 626-630.
    • (2005) Ann Neurol , vol.58 , pp. 626-630
    • Struys, E.A.1    Korman, S.H.2    Salomons, G.S.3
  • 32
    • 12344330398 scopus 로고    scopus 로고
    • Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria
    • Struys EA, Salomons GS, Achouri Y, et al. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet 2005; 76: 358-360.
    • (2005) Am J Hum Genet , vol.76 , pp. 358-360
    • Struys, E.A.1    Salomons, G.S.2    Achouri, Y.3
  • 33
    • 31644447811 scopus 로고    scopus 로고
    • Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria
    • Read MH, Bonamy C, Laloum D, et al. Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. J Inherit Metab Dis 2005; 28: 1149-1150.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 1149-1150
    • Read, M.H.1    Bonamy, C.2    Laloum, D.3
  • 34
    • 37049033294 scopus 로고    scopus 로고
    • Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II
    • Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab 2008; 93: 36-39.
    • (2008) Mol Genet Metab , vol.93 , pp. 36-39
    • Angle, B.1    Burton, B.K.2
  • 35
    • 56049125278 scopus 로고    scopus 로고
    • Two eminently treatable genetic metabolic myopathies
    • Yee WC. Two eminently treatable genetic metabolic myopathies. Neurol India 2008; 56: 333-338.
    • (2008) Neurol India , vol.56 , pp. 333-338
    • Yee, W.C.1
  • 36
    • 74249118423 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria and brain tumors: A case report and review of the literature
    • Yazici N, Sarialioglu F, Alkan O, et al. L-2-Hydroxyglutaric aciduria and brain tumors: A case report and review of the literature. J Pediatr Hematol Oncol 2009; 31: 865-869.
    • (2009) J Pediatr Hematol Oncol , vol.31 , pp. 865-869
    • Yazici, N.1    Sarialioglu, F.2    Alkan, O.3
  • 37
    • 77949463648 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria and multiple acyl-coenzyme A dehydrogenase deficiency are distinct metabolic disorders
    • Rakheja D. L-2-Hydroxyglutaric aciduria and multiple acyl-coenzyme A dehydrogenase deficiency are distinct metabolic disorders. J Pediatr Hematol Oncol 2010; 32: 169-170.
    • (2010) J Pediatr Hematol Oncol , vol.32 , pp. 169-170
    • Rakheja, D.1
  • 38
    • 77949262337 scopus 로고    scopus 로고
    • Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer
    • Murugan AK, Bojdani E, Xing M. Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer. Biochem Biophys Res Commun 2010; 393: 555-559.
    • (2010) Biochem Biophys Res Commun , vol.393 , pp. 555-559
    • Murugan, A.K.1    Bojdani, E.2    Xing, M.3
  • 39
    • 58349111311 scopus 로고    scopus 로고
    • IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors
    • 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. Hum Mutat 2009; 30: 7-11.
    • (2009) Hum Mutat , vol.30 , pp. 7-11
    • Bleeker, F.E.1    Lamba, S.2    Leenstra, S.3
  • 40
    • 78651081790 scopus 로고    scopus 로고
    • National Center for Biotechnology Information Single Nucleotide Polymorphism Database.
    • National Center for Biotechnology Information Single Nucleotide Polymorphism Database.
  • 41
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    • Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000; 287: 848-851.
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1    Ferrell, R.E.2    Willett-Brozick, J.E.3
  • 42
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000; 26: 268-270.
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 43
    • 0034964421 scopus 로고    scopus 로고
    • Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
    • Astuti D, Latif F, Dallol A, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001; 69: 49-54.
    • (2001) Am J Hum Genet , vol.69 , pp. 49-54
    • Astuti, D.1    Latif, F.2    Dallol, A.3
  • 44
    • 18544365990 scopus 로고    scopus 로고
    • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
    • Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30: 406-410.
    • (2002) Nat Genet , vol.30 , pp. 406-410
    • Tomlinson, I.P.1    Alam, N.A.2    Rowan, A.J.3
  • 45
    • 43049157909 scopus 로고    scopus 로고
    • Wilms tumor genetics: Mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors
    • Ruteshouser EC, Robinson SM, Huff V. Wilms tumor genetics: Mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors. Genes Chromosomes Cancer 2008; 47: 461-470.
    • (2008) Genes Chromosomes Cancer , vol.47 , pp. 461-470
    • Ruteshouser, E.C.1    Robinson, S.M.2    Huff, V.3


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