IDH1

Summary

Gene Symbol: IDH1
Description: isocitrate dehydrogenase (NADP(+)) 1, cytosolic
Alias: HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC, PICD, isocitrate dehydrogenase [NADP] cytoplasmic, NADP(+)-specific ICDH, NADP-dependent isocitrate dehydrogenase, cytosolic, NADP-dependent isocitrate dehydrogenase, peroxisomal, epididymis luminal protein 216, epididymis secretory protein Li 26, isocitrate dehydrogenase 1 (NADP+), soluble, oxalosuccinate decarboxylase
Species: human
Products:     IDH1

Top Publications

  1. Ward P, Patel J, Wise D, Abdel Wahab O, Bennett B, Coller H, 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;17:225-34 pubmed publisher
    The somatic mutations in cytosolic isocitrate dehydrogenase 1 (IDH1) observed in gliomas can lead to the production of 2-hydroxyglutarate (2HG)...
  2. Boissel N, Nibourel O, Renneville A, Gardin C, Reman O, Contentin N, et al. Prognostic impact of isocitrate dehydrogenase enzyme isoforms 1 and 2 mutations in acute myeloid leukemia: a study by the Acute Leukemia French Association group. J Clin Oncol. 2010;28:3717-23 pubmed publisher
    ..sequencing in acute myeloid leukemia (AML) identified recurrent isocitrate dehydrogenase enzyme isoform (IDH1) mutations (IDH1m), previously reported to be involved in gliomas as well as IDH2 mutations (IDH2m)...
  3. Dang L, White D, Gross S, Bennett B, Bittinger M, Driggers E, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature. 2009;462:739-44 pubmed publisher
    Mutations in the enzyme cytosolic isocitrate dehydrogenase 1 (IDH1) are a common feature of a major subset of primary human brain cancers...
  4. Yang B, Zhong C, Peng Y, Lai Z, Ding J. Molecular mechanisms of "off-on switch" of activities of human IDH1 by tumor-associated mutation R132H. Cell Res. 2010;20:1188-200 pubmed publisher
    Human cytosolic NADP-IDH (IDH1) has recently been found to be involved in tumorigenesis. Notably, the tumor-derived IDH1 mutations identified so far mainly occur at Arg132, and mutation R132H is the most prevalent one...
  5. Tang J, Chang C, Lin P, Chang J. Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer. Kaohsiung J Med Sci. 2012;28:138-44 pubmed publisher
    ..Mutations of IDH1 and IDH2 have been identified in patients with glioma, leukemia, and other cancers...
  6. Amary M, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet. 2011;43:1262-5 pubmed publisher
    ..that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein...
  7. Reitman Z, Jin G, Karoly E, Spasojevic I, Yang J, Kinzler K, et al. Profiling the effects of isocitrate dehydrogenase 1 and 2 mutations on the cellular metabolome. Proc Natl Acad Sci U S A. 2011;108:3270-5 pubmed publisher
    Point mutations of the NADP(+)-dependent isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) occur early in the pathogenesis of gliomas...
  8. Gupta R, Flanagan S, Li C, Lee M, Shivalingham B, Maleki S, et al. Expanding the spectrum of IDH1 mutations in gliomas. Mod Pathol. 2013;26:619-25 pubmed publisher
    Mutations in isocitrate dehydrogenase -1 or -2 (IDH1 or IDH2) are found in the majority of WHO grade II and III diffuse gliomas and secondary glioblastomas...
  9. Li S, Chou A, Chen W, Chen R, Deng Y, Phillips H, et al. Overexpression of isocitrate dehydrogenase mutant proteins renders glioma cells more sensitive to radiation. Neuro Oncol. 2013;15:57-68 pubmed publisher
    Mutations in isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) are found in a subset of gliomas...

More Information

Publications86

  1. Pansuriya T, van Eijk R, d Adamo P, van Ruler M, Kuijjer M, Oosting J, et al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 2011;43:1256-61 pubmed publisher
    ..We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c...
  2. Borger D, Tanabe K, Fan K, Lopez H, Fantin V, Straley K, et al. Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. Oncologist. 2012;17:72-9 pubmed publisher
    ..malignancy has led to the novel discovery of mutations in the gene encoding isocitrate dehydrogenase 1 (IDH1) in tumors from a subset of patients with cholangiocarcinoma...
  3. Mukasa A, Takayanagi S, Saito K, Shibahara J, Tabei Y, Furuya K, et al. Significance of IDH mutations varies with tumor histology, grade, and genetics in Japanese glioma patients. Cancer Sci. 2012;103:587-92 pubmed publisher
    Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found frequently in malignant gliomas and are likely involved in early gliomagenesis...
  4. Hartmann C, Hentschel B, Wick W, Capper D, Felsberg J, Simon M, 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. 2010;120:707-18 pubmed publisher
    ..Here we provide evidence that the IDH1 status is more prognostic for overall survival than standard histological criteria that differentiate high-grade ..
  5. Yip S, Butterfield Y, Morozova O, Chittaranjan S, Blough M, An J, et al. Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers. J Pathol. 2012;226:7-16 pubmed publisher
    ..As anticipated, there was a high rate of IDH mutations: all cases had mutations in either IDH1 (14/16) or IDH2 (2/16)...
  6. Arai M, Nobusawa S, Ikota H, Takemura S, Nakazato Y. Frequent IDH1/2 mutations in intracranial chondrosarcoma: a possible diagnostic clue for its differentiation from chordoma. Brain Tumor Pathol. 2012;29:201-6 pubmed publisher
    ..Recently, in an examination of various types of mesenchymal tumor, IDH1/2 mutations were only found in cartilaginous tumors including central conventional and periosteal enchondromas/..
  7. Chotirat S, Thongnoppakhun W, Promsuwicha O, Boonthimat C, Auewarakul C. Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. J Hematol Oncol. 2012;5:5 pubmed publisher
    Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes encode cytosolic and mitochondrial enzymes that catalyze the conversion of isocitrate to ?-ketoglutarate...
  8. Bujko M, Kober P, Matyja E, Nauman P, Dyttus Cebulok K, Czeremszyńska B, et al. Prognostic value of IDH1 mutations identified with PCR-RFLP assay in glioblastoma patients. Mol Diagn Ther. 2010;14:163-9 pubmed publisher
    It has been shown that somatic missense mutations in codon 132 of the NADP+ dependent isocitrate dehydrogenase 1 (IDH1) gene occur frequently in primary brain tumors including highly malignant glioblastoma (GBM)...
  9. Shibata T, Kokubu A, Miyamoto M, Sasajima Y, Yamazaki N. Mutant IDH1 confers an in vivo growth in a melanoma cell line with BRAF mutation. Am J Pathol. 2011;178:1395-402 pubmed publisher
    ..a cohort of 142 primary nonepithelial tumors, we discovered that about 10% of melanoma cases (4/39) harbored an IDH1 or IDH2 mutation...
  10. Turcan S, Rohle D, Goenka A, Walsh L, Fang F, Yilmaz E, et al. IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. Nature. 2012;483:479-83 pubmed publisher
    ..Here we show that mutation of a single gene, isocitrate dehydrogenase 1 (IDH1), establishes G-CIMP by remodelling the methylome...
  11. Green C, Evans C, Hills R, Burnett A, Linch D, Gale R. The prognostic significance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ITD status. Blood. 2010;116:2779-82 pubmed publisher
    Mutations in the isocitrate dehydrogenase gene (IDH1) were recently described in patients with acute myeloid leukemia (AML)...
  12. Kloosterhof N, Bralten L, Dubbink H, French P, van den Bent M. Isocitrate dehydrogenase-1 mutations: a fundamentally new understanding of diffuse glioma?. Lancet Oncol. 2011;12:83-91 pubmed publisher
    The discovery of somatic mutations in the gene encoding isocitrate dehydrogenase-1 (IDH1) in glioblastomas was remarkable because the enzyme was not previously identified with any known oncogenic pathway...
  13. Ward P, Cross J, Lu C, Weigert O, Abel Wahab O, Levine R, et al. Identification of additional IDH mutations associated with oncometabolite R(-)-2-hydroxyglutarate production. Oncogene. 2012;31:2491-8 pubmed publisher
    Mutations in cytosolic isocitrate dehydrogenase 1 (IDH1) or its mitochondrial homolog IDH2 can lead to R(-)-2-hydroxyglutarate (2HG) production...
  14. Houillier C, Wang X, Kaloshi G, Mokhtari K, Guillevin R, Laffaire J, et al. IDH1 or IDH2 mutations predict longer survival and response to temozolomide in low-grade gliomas. Neurology. 2010;75:1560-6 pubmed publisher
    Recent studies have shown that IDH1 and IDH2 mutations occur frequently in gliomas, including low-grade gliomas. However, their impact on the prognosis and chemosensitivity of low-grade gliomas remains unclear...
  15. Killela P, Pirozzi C, Healy P, Reitman Z, Lipp E, Rasheed B, et al. Mutations in IDH1, IDH2, and in the TERT promoter define clinically distinct subgroups of adult malignant gliomas. Oncotarget. 2014;5:1515-25 pubmed
    Frequent mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and the promoter of telomerase reverse transcriptase (TERT) represent two significant discoveries in glioma genomics...
  16. Jin G, Reitman Z, Spasojevic I, Batinic Haberle I, Yang J, Schmidt Kittler O, et al. 2-hydroxyglutarate production, but not dominant negative function, is conferred by glioma-derived NADP-dependent isocitrate dehydrogenase mutations. PLoS ONE. 2011;6:e16812 pubmed publisher
    Gliomas frequently contain mutations in the cytoplasmic NADP(+)-dependent isocitrate dehydrogenase (IDH1) or the mitochondrial NADP(+)-dependent isocitrate dehydrogenase (IDH2)...
  17. Fathi A, Sadrzadeh H, Borger D, Ballen K, Amrein P, Attar E, et al. Prospective serial evaluation of 2-hydroxyglutarate, during treatment of newly diagnosed acute myeloid leukemia, to assess disease activity and therapeutic response. Blood. 2012;120:4649-52 pubmed publisher
    Mutations of genes encoding isocitrate dehydrogenase (IDH1 and IDH2) have been recently described in acute myeloid leukemia (AML)...
  18. Tefferi A, Lasho T, Abdel Wahab O, Guglielmelli P, Patel J, Caramazza D, et al. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia. 2010;24:1302-9 pubmed publisher
    ..project, 1473 patients with myeloproliferative neoplasms (MPN) were screened for isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations: 594 essential thrombocythemia (ET), 421 polycythemia vera (PV), 312 primary myelofibrosis (PMF), ..
  19. DiNardo C, Propert K, Loren A, Paietta E, Sun Z, Levine R, et al. Serum 2-hydroxyglutarate levels predict isocitrate dehydrogenase mutations and clinical outcome in acute myeloid leukemia. Blood. 2013;121:4917-24 pubmed publisher
    ..0005). 2HG levels did not differ among IDH1 or IDH2 allelic variants...
  20. Mohrenz I, Antonietti P, Pusch S, Capper D, Balss J, Voigt S, et al. Isocitrate dehydrogenase 1 mutant R132H sensitizes glioma cells to BCNU-induced oxidative stress and cell death. Apoptosis. 2013;18:1416-1425 pubmed publisher
    Isocitrate dehydrogenase 1 (IDH1) decarboxylates isocitrate to ?-ketoglutarate (?-KG) leading to generation of NADPH, which is required to regenerate reduced glutathione (GSH), the major cellular ROS scavenger...
  21. Andersson A, Miller D, Lynch J, Lemoff A, Cai Z, Pounds S, et al. IDH1 and IDH2 mutations in pediatric acute leukemia. Leukemia. 2011;25:1570-7 pubmed publisher
    To investigate the frequency of isocitrate dehydrogenase 1 (IDH1) and 2 (IDH2) mutations in pediatric acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL), we sequenced these genes in diagnostic samples from 515 patients (227 ..
  22. Lu C, Ward P, Kapoor G, Rohle D, Turcan S, Abdel Wahab O, et al. IDH mutation impairs histone demethylation and results in a block to cell differentiation. Nature. 2012;483:474-8 pubmed publisher
    Recurrent mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 have been identified in gliomas, acute myeloid leukaemias (AML) and chondrosarcomas, and share a novel enzymatic property of producing 2-hydroxyglutarate (2HG) from ?-..
  23. Kipp B, Voss J, Kerr S, Barr Fritcher E, Graham R, Zhang L, et al. Isocitrate dehydrogenase 1 and 2 mutations in cholangiocarcinoma. Hum Pathol. 2012;43:1552-8 pubmed publisher
    ..The results of this study are encouraging because it identifies a new potential target for genotype-directed therapeutic trials and may represent a potential biomarker for earlier detection of cholangiocarcinoma in a subset of cases. ..
  24. Reitman Z, Duncan C, Poteet E, Winters A, Yan L, Gooden D, et al. Cancer-associated isocitrate dehydrogenase 1 (IDH1) R132H mutation and d-2-hydroxyglutarate stimulate glutamine metabolism under hypoxia. J Biol Chem. 2014;289:23318-28 pubmed publisher
    Mutations in the cytosolic NADP(+)-dependent isocitrate dehydrogenase (IDH1) occur in several types of cancer, and altered cellular metabolism associated with IDH1 mutations presents unique therapeutic opportunities...
  25. Grassian A, Lin F, Barrett R, Liu Y, Jiang W, Korpal M, et al. Isocitrate dehydrogenase (IDH) mutations promote a reversible ZEB1/microRNA (miR)-200-dependent epithelial-mesenchymal transition (EMT). J Biol Chem. 2012;287:42180-94 pubmed publisher
    Mutations in the genes encoding isocitrate dehydrogenase 1 and 2 (IDH1/2) occur in a variety of tumor types, resulting in production of the proposed oncometabolite, 2-hydroxyglutarate (2-HG)...
  26. Yang H, Ye D, Guan K, Xiong Y. IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives. Clin Cancer Res. 2012;18:5562-71 pubmed publisher
    Genes encoding for isocitrate dehydrogenases 1 and 2, IDH1 and IDH2, are frequently mutated in multiple types of human cancer...
  27. Jin G, Reitman Z, Duncan C, Spasojevic I, Gooden D, Rasheed B, et al. Disruption of wild-type IDH1 suppresses D-2-hydroxyglutarate production in IDH1-mutated gliomas. Cancer Res. 2013;73:496-501 pubmed publisher
    Point mutations at Arg132 of the cytoplasmic NADP(+)-dependent isocitrate dehydrogenase 1 (IDH1) occur frequently in gliomas and result in a gain of function to produce the "oncometabolite" D-2-hydroxyglutarate (D-2HG)...
  28. Lopez G, Reitman Z, Solomon D, Waldman T, Bigner D, McLendon R, et al. IDH1(R132) mutation identified in one human melanoma metastasis, but not correlated with metastases to the brain. Biochem Biophys Res Commun. 2010;398:585-7 pubmed publisher
    Isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are enzymes which convert isocitrate to alpha-ketoglutarate while reducing nicotinamide adenine dinucleotide phosphate (NADP+to NADPH)...
  29. Chou W, Lei W, Ko B, Hou H, Chen C, Tang J, et al. The prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia. 2011;25:246-53 pubmed publisher
    ..We analyzed 446 adults with primary non-M3 AML and found IDH2 R172, R140 and IDH1 R132 mutations occurred at a frequency of 2.9, 9.2 and 6.1%, respectively...
  30. Schnittger S, Haferlach C, Ulke M, Alpermann T, Kern W, Haferlach T. IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status. Blood. 2010;116:5486-96 pubmed publisher
    Mutations in the IDH1 gene at position R132 coding for the enzyme cytosolic isocitrate dehydrogenase are known in glioma and have recently been detected also in acute myeloid leukemia (AML)...
  31. Piaskowski S, Bienkowski M, Stoczynska Fidelus E, Stawski R, Sieruta M, Szybka M, et al. Glioma cells showing IDH1 mutation cannot be propagated in standard cell culture conditions. Br J Cancer. 2011;104:968-70 pubmed publisher
    ..For example, glioblastoma cell lines presenting EGFR amplification cannot be established. IDH1 sequencing and loss of heterozygosity analysis was performed for 15 surgery samples of astrocytoma and early and ..
  32. Zhang Y, Wei H, Wang M, Huai L, Mi Y, Zhang Y, et al. Some novel features of IDH1-mutated acute myeloid leukemia revealed in Chinese patients. Leuk Res. 2011;35:1301-6 pubmed publisher
    Mutations of isocitrate dehydrogenase 1 (IDH1) have recently been reported in acute myeloid leukemia (AML). However, the characteristics of IDH1-mutated AML are still not known clearly...
  33. Rocquain J, Carbuccia N, Trouplin V, Raynaud S, Murati A, Nezri M, et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer. 2010;10:401 pubmed publisher
    ..We searched for mutations in the ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in 65 myelodysplastic syndromes (MDSs) and 64 acute ..
  34. Patel K, Ravandi F, Ma D, Paladugu A, Barkoh B, Medeiros L, et al. Acute myeloid leukemia with IDH1 or IDH2 mutation: frequency and clinicopathologic features. Am J Clin Pathol. 2011;135:35-45 pubmed publisher
    Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are reported in acute myeloid leukemia (AML). We studied the frequency and the clinicopathologic features of IDH1 and IDH2 mutations in AML...
  35. Wang P, Dong Q, Zhang C, Kuan P, Liu Y, Jeck W, et al. Mutations in isocitrate dehydrogenase 1 and 2 occur frequently in intrahepatic cholangiocarcinomas and share hypermethylation targets with glioblastomas. Oncogene. 2013;32:3091-100 pubmed publisher
    Mutations in the genes encoding isocitrate dehydrogenase, IDH1 and IDH2, have been reported in gliomas, myeloid leukemias, chondrosarcomas and thyroid cancer...
  36. Gorovets D, Kannan K, Shen R, Kastenhuber E, Islamdoust N, Campos C, et al. IDH mutation and neuroglial developmental features define clinically distinct subclasses of lower grade diffuse astrocytic glioma. Clin Cancer Res. 2012;18:2490-501 pubmed publisher
    ..We found that IDH mutational status delineated molecularly and clinically distinct glioma subsets, with IDH mutant (IDH mt) tumors ..
  37. Capper D, Reuss D, Schittenhelm J, Hartmann C, Bremer J, Sahm F, et al. Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. Acta Neuropathol. 2011;121:241-52 pubmed publisher
    Isocitrate dehydrogenase 1 (IDH1) mutations are frequent in astrocytomas, oligoastrocytomas and oligodendrogliomas...
  38. Yen K, Bittinger M, Su S, Fantin V. Cancer-associated IDH mutations: biomarker and therapeutic opportunities. Oncogene. 2010;29:6409-17 pubmed publisher
    ..Soon, it became clear that the mutations identified impaired the ability of IDH1 and IDH2 to catalyze the conversion of isocitrate to ?-ketoglutarate (?KG), whereas conferring a gain of a novel ..
  39. Gozé C, Bezzina C, Gozé E, Rigau V, Maudelonde T, Bauchet L, et al. 1P19Q loss but not IDH1 mutations influences WHO grade II gliomas spontaneous growth. J Neurooncol. 2012;108:69-75 pubmed publisher
    Mutations at the codon 132 in the isocitrate dehydrogenase 1 (IDH1) gene occur early, with a high frequency, in World Health Organization (WHO) grade II gliomas...
  40. Christensen B, Smith A, Zheng S, Koestler D, Houseman E, Marsit C, et al. DNA methylation, isocitrate dehydrogenase mutation, and survival in glioma. J Natl Cancer Inst. 2011;103:143-53 pubmed publisher
    ..The association between methylation class and IDH mutation (IDH1 and IDH2) was tested using univariate and multivariable analysis for tumors (n = 95) with available substrate for ..
  41. Yan W, Zhang W, You G, Bao Z, Wang Y, Liu Y, et al. Correlation of IDH1 mutation with clinicopathologic factors and prognosis in primary glioblastoma: a report of 118 patients from China. PLoS ONE. 2012;7:e30339 pubmed publisher
    It has been reported that IDH1 (IDH1R132) mutation was a frequent genomic alteration in grade II and grade III glial tumors but rare in primary glioblastoma (pGBM)...
  42. Weller M, Wick W, von Deimling A. Isocitrate dehydrogenase mutations: a challenge to traditional views on the genesis and malignant progression of gliomas. Glia. 2011;59:1200-4 pubmed publisher
    ..Mutations in the genes encoding IDH1 and IDH2 were first reported in human gliomas in 2008 and later on also identified in a minority of patients with ..
  43. Wise D, Ward P, Shay J, Cross J, Gruber J, Sachdeva U, et al. Hypoxia promotes isocitrate dehydrogenase-dependent carboxylation of ?-ketoglutarate to citrate to support cell growth and viability. Proc Natl Acad Sci U S A. 2011;108:19611-6 pubmed publisher
    ..in hypoxia is associated with a concomitant increased synthesis of 2-hydroxyglutarate (2HG) in cells with wild-type IDH1 and IDH2...
  44. Lin J, Qian J, Yao D, Li Y, Yang J, Chen Q, et al. Rapid and reliable detection of IDH1 R132 mutations in acute myeloid leukemia using high-resolution melting curve analysis. Clin Biochem. 2011;44:779-83 pubmed publisher
    The mutations of isocitrate dehydrogenase 1 (IDH1) gene have been identified in a proportion of hematologic malignancies including acute myeloid leukemia (AML)...
  45. Patnaik M, Hanson C, Hodnefield J, Lasho T, Finke C, Knudson R, et al. Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic study of 277 patients. Leukemia. 2012;26:101-5 pubmed publisher
    ..current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C)...
  46. Pope W, Prins R, Albert Thomas M, Nagarajan R, Yen K, Bittinger M, et al. Non-invasive detection of 2-hydroxyglutarate and other metabolites in IDH1 mutant glioma patients using magnetic resonance spectroscopy. J Neurooncol. 2012;107:197-205 pubmed publisher
    Mutations of the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) are commonly found in primary brain cancers...
  47. Wick W, Meisner C, Hentschel B, Platten M, Schilling A, Wiestler B, et al. Prognostic or predictive value of MGMT promoter methylation in gliomas depends on IDH1 mutation. Neurology. 2013;81:1515-22 pubmed publisher
    To explore whether the isocitrate dehydrogenase 1 (IDH1) or 1p/19q status determines the prognostic vs predictive role of O(6)-methylguanine-DNA methyltransferase (MGMT) promoter methylation in the Neuro-Oncology Working Group of the ..
  48. Sturm D, Witt H, Hovestadt V, Khuong Quang D, Jones D, Konermann C, et al. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell. 2012;22:425-37 pubmed publisher
    ..an epigenetic subgroup of GBM with a distinct global methylation pattern, and that they are mutually exclusive with IDH1 mutations, which characterize a third mutation-defined subgroup...
  49. Zou Y, Zeng Y, Zhang D, Zou S, Cheng Y, Yao Y. IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. Biochem Biophys Res Commun. 2010;402:378-83 pubmed publisher
    Frequent mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) have been identified in gliomas and acute myeloid leukemia (AML)...
  50. van den Bent M, Hartmann C, Preusser M, Strobel T, Dubbink H, Kros J, et al. Interlaboratory comparison of IDH mutation detection. J Neurooncol. 2013;112:173-8 pubmed publisher
    ..All laboratories used immunohistochemistry (IHC) with an antibody against the most frequent IDH1 mutation (R132H) as a first step...
  51. Tönjes M, Barbus S, Park Y, Wang W, Schlotter M, Lindroth A, et al. BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1. Nat Med. 2013;19:901-908 pubmed publisher
    ..Expression of BCAT1 was exclusive to tumors carrying wild-type isocitrate dehydrogenase 1 (IDH1) and IDH2 genes and was highly correlated with methylation patterns in the BCAT1 promoter region...
  52. Paschka P, Schlenk R, Gaidzik V, Habdank M, Krönke J, Bullinger L, et al. IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. J Clin Oncol. 2010;28:3636-43 pubmed publisher
    To analyze the frequency and prognostic impact of isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) mutations in acute myeloid leukemia (AML)...
  53. Jiao Y, Killela P, Reitman Z, Rasheed A, Heaphy C, de Wilde R, et al. Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas. Oncotarget. 2012;3:709-22 pubmed
    ..71%), oligoastrocytomas (68%), and secondary glioblastomas (57%), and ATRX mutations are associated with IDH1 mutations and with an alternative lengthening of telomeres phenotype...
  54. Chaumeil M, Larson P, Yoshihara H, Danforth O, Vigneron D, Nelson S, et al. Non-invasive in vivo assessment of IDH1 mutational status in glioma. Nat Commun. 2013;4:2429 pubmed publisher
    Gain-of-function mutations of the isocitrate dehydrogenase 1 (IDH1) gene are among the most prevalent in low-grade gliomas and secondary glioblastoma...
  55. Metellus P, Colin C, Taieb D, Guedj E, Nanni Metellus I, de Paula A, et al. IDH mutation status impact on in vivo hypoxia biomarkers expression: new insights from a clinical, nuclear imaging and immunohistochemical study in 33 glioma patients. J Neurooncol. 2011;105:591-600 pubmed publisher
    Mutations in the gene encoding isocitrate dehydrogenase enzyme isoforms 1 (IDH1) and 2 (IDH2) have recently been identified in a large proportion of glial tumors of the CNS, but their mechanistic role in tumor development remains unclear...
  56. Tefferi A, Jimma T, Sulai N, Lasho T, Finke C, Knudson R, et al. IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2V617F. Leukemia. 2012;26:475-80 pubmed publisher
    ..The mutant IDH was detected in 12 patients (4%): 7 IDH2 (5 R140Q, 1 R140W and 1 R172G) and 5 IDH1 (3 R132S and 2 R132C). In all, 6 (50%) of the 12 IDH-mutated patients also expressed JAK2V617F...
  57. Metellus P, Coulibaly B, Colin C, de Paula A, Vasiljevic A, Taieb D, et al. Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis. Acta Neuropathol. 2010;120:719-29 pubmed publisher
    ..b>IDH1 codon 132 and IDH2 codon 172 sequencing was performed in a series of 47 LGGs and correlated with clinical ..
  58. Figueroa M, Abdel Wahab O, Lu C, Ward P, Patel J, Shih A, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. 2010;18:553-67 pubmed publisher
    ..Mutational and epigenetic profiling of a large acute myeloid leukemia (AML) patient cohort revealed that IDH1/2-mutant AMLs display global DNA hypermethylation and a specific hypermethylation signature...
  59. Wang Y, Li S, Chen L, You G, Bao Z, Yan W, et al. Glioblastoma with an oligodendroglioma component: distinct clinical behavior, genetic alterations, and outcome. Neuro Oncol. 2012;14:518-25 pubmed publisher
    ..The GBMO group showed more frequent tumor-related seizures (P= .027), higher frequency of IDH1 mutation (31% vs. <5%, P= .015), lower MGMT expression (P= .016), and longer survival (19.0 vs. 13.2 months; P= ...
  60. Amary M, Bacsi K, Maggiani F, Damato S, Halai D, Berisha F, 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. 2011;224:334-43 pubmed publisher
    Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML)...
  61. Stockhammer F, Misch M, Helms H, Lengler U, Prall F, von Deimling A, et al. IDH1/2 mutations in WHO grade II astrocytomas associated with localization and seizure as the initial symptom. Seizure. 2012;21:194-7 pubmed publisher
    ..The majority of low-grade gliomas reveal mutations in the genes encoding isocitrate-dehydrogenase 1 (IDH1) or 2 (IDH2). These mutations are associated with metabolic changes that are potentially epileptogenic...
  62. Jin G, Pirozzi C, Chen L, Lopez G, Duncan C, Feng J, et al. Mutant IDH1 is required for IDH1 mutated tumor cell growth. Oncotarget. 2012;3:774-82 pubmed
    Frequent somatic hotspot mutations in isocitrate dehydrogenase 1 (IDH1) have been identified in gliomas, acute myeloid leukemias, chondrosarcomas, and other cancers, providing a likely avenue for targeted cancer therapy...
  63. Preusser M, Capper D, Hartmann C. IDH testing in diagnostic neuropathology: review and practical guideline article invited by the Euro-CNS research committee. Clin Neuropathol. 2011;30:217-30 pubmed
    Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas...
  64. Rohle D, Popovici Muller J, Palaskas N, Turcan S, Grommes C, Campos C, et al. An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. Science. 2013;340:626-30 pubmed publisher
    ..One potential drug target is isocitrate dehydrogenase 1 (IDH1), which is mutated in multiple human cancers...
  65. Abbas S, Lugthart S, Kavelaars F, Schelen A, Koenders J, Zeilemaker A, et al. Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value. Blood. 2010;116:2122-6 pubmed publisher
    Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML ..
  66. Voss J, Holtegaard L, Kerr S, Fritcher E, Roberts L, Gores G, et al. Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions. Hum Pathol. 2013;44:1216-22 pubmed publisher
    ..When combined with IDH1/2 testing, 40 (43%) of the 94 cholangiocarcinomas had a detectable mutation...
  67. Lin J, Yao D, Qian J, Chen Q, Qian W, Li Y, et al. IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. Ann Hematol. 2012;91:519-25 pubmed publisher
    The somatic mutations of isocitrate dehydrogenase genes (IDH1 and IDH2) have been identified in a proportion of hematologic malignancies...
  68. Ward P, Lu C, Cross J, Abdel Wahab O, Levine R, Schwartz G, et al. The potential for isocitrate dehydrogenase mutations to produce 2-hydroxyglutarate depends on allele specificity and subcellular compartmentalization. J Biol Chem. 2013;288:3804-15 pubmed publisher
    Monoallelic point mutations in cytosolic isocitrate dehydrogenase 1 (IDH1) and its mitochondrial homolog IDH2 can lead to elevated levels of 2-hydroxyglutarate (2HG) in multiple cancers...
  69. Dang L, Jin S, Su S. IDH mutations in glioma and acute myeloid leukemia. Trends Mol Med. 2010;16:387-97 pubmed publisher
    The systematic sequencing of glioblastoma multiforme (GBM) genomes has identified the recurrent mutation of IDH1, a gene encoding NADP(+)-dependent isocitrate dehydrogenase 1 (IDH1) that catalyzes the oxidative decarboxylation of ..
  70. Hemerly J, Bastos A, Cerutti J. Identification of several novel non-p.R132 IDH1 variants in thyroid carcinomas. Eur J Endocrinol. 2010;163:747-55 pubmed publisher
    Somatic mutations at residue R132 of isocitrate dehydrogenase 1 (IDH1) were recently discovered in gliomas and leukaemia at a high frequency. IDH1 is a metabolic gene, and the R132 mutations create a new enzymatic activity...
  71. Takano S, Kato Y, Yamamoto T, Kaneko M, Ishikawa E, Tsujimoto Y, et al. Immunohistochemical detection of IDH1 mutation, p53, and internexin as prognostic factors of glial tumors. J Neurooncol. 2012;108:361-73 pubmed publisher
    Isocitrate dehydrogenase 1 (IDH1) mutations, which are early and frequent genetic alterations in astrocytomas, oligodendrogliomas, oligoastrocytomas, and secondary glioblastomas, are specific to arginine 132 (R132)...
  72. Rakheja D, Konoplev S, Medeiros L, Chen W. IDH mutations in acute myeloid leukemia. Hum Pathol. 2012;43:1541-51 pubmed publisher
    ..b>IDH1/IDH2 mutations are heterozygous, and their combined frequency is approximately 17% in unselected acute myeloid ..
  73. Thol F, Weissinger E, Krauter J, Wagner K, Damm F, Wichmann M, et al. IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis. Haematologica. 2010;95:1668-74 pubmed publisher
    ..Heterozygous missense mutations in IDH1 at position R132 and in IDH2 at positions R140 and R172 have recently been reported in acute myeloid leukemia...
  74. Seltzer M, Bennett B, Joshi A, Gao P, Thomas A, Ferraris D, et al. Inhibition of glutaminase preferentially slows growth of glioma cells with mutant IDH1. Cancer Res. 2010;70:8981-7 pubmed publisher
    Mutation at the R132 residue of isocitrate dehydrogenase 1 (IDH1), frequently found in gliomas and acute myelogenous leukemia, creates a neoenzyme that produces 2-hydroxyglutarate (2-HG) from ?-ketoglutarate (?-KG)...
  75. Beiko J, Suki D, Hess K, Fox B, Cheung V, Cabral M, et al. IDH1 mutant malignant astrocytomas are more amenable to surgical resection and have a survival benefit associated with maximal surgical resection. Neuro Oncol. 2014;16:81-91 pubmed publisher
    b>IDH1 gene mutations identify gliomas with a distinct molecular evolutionary origin...
  76. Juratli T, Peitzsch M, Geiger K, Schackert G, Eisenhofer G, Krex D. Accumulation of 2-hydroxyglutarate is not a biomarker for malignant progression in IDH-mutated low-grade gliomas. Neuro Oncol. 2013;15:682-90 pubmed publisher
    ..b>IDH1 mutations were detected in 27 (77.1%) of 37 patients with LGG...
  77. Krell D, Assoku M, Galloway M, Mulholland P, Tomlinson I, Bardella C. Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma. PLoS ONE. 2011;6:e19868 pubmed publisher
    Isocitrate dehydrogenases (IDHs) catalyse oxidative decarboxylation of isocitrate to α-ketoglutarate (α-KG). IDH1 functions in the cytosol and peroxisomes, whereas IDH2 and IDH3 are both localized in the mitochondria...