References
- SjöblomTJonesSWoodLDThe consensus coding sequences of human breast and colorectal cancersScience2006314579726827416959974
- ParsonsDWJonesSZhangXAn integrated genomic analysis of human glioblastoma multiformeScience200832158971807181218772396
- YanHParsonsDWJinGIDH1 and IDH2 mutations in gliomasN Engl J Med2009360876577319228619
- MardisERDingLDoolingDJRecurring mutations found by sequencing an acute myeloid leukemia genomeN Engl J Med2009361111058106619657110
- KosmiderOGelsi-BoyerVSlamaLMutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasmsLeukemia20102451094109620376084
- BorgerDRTanabeKKFanKCFrequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotypingOncologist2012171727922180306
- AmaryMFDamatoSHalaiDOllier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2Nat Genet201143121262126522057236
- AmaryMFBacsiKMaggianiFIDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumoursJ Pathol2011224333434321598255
- KranendijkMStruysEASalomonsGSVan der KnaapMSJakobsCProgress in understanding 2-hydroxyglutaric aciduriasJ Inherit Metab Dis201235457158722391998
- DangLWhiteDWGrossSCancer-associated IDH1 mutations produce 2-hydroxyglutarateNature2009462727473974419935646
- FigueroaMEAbdel-WahabOLuCLeukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiationCancer Cell201018655356721130701
- XuWYangHLiuYOncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenasesCancer Cell2011191173021251613
- LuCWardPSKapoorGSIDH mutation impairs histone demethylation and results in a block to cell differentiationNature2012483739047447822343901
- TurcanSRohleDGoenkaAIDH1 mutation is sufficient to establish the glioma hypermethylator phenotypeNature2012483739047948322343889
- YenKEBittingerMASuSMFantinVRCancer-associated IDH mutations: biomarker and therapeutic opportunitiesOncogene201029496409641720972461
- CairnsRAMakTWOncogenic isocitrate dehydrogenase mutations: mechanisms, models, and clinical opportunitiesCancer Discov20133773074123796461
- ReitmanZJYanHIsocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolismJ Natl Cancer Inst20101021393294120513808
- LeeSMKohHJParkDCSongBJHuhTLParkJWCytosolic NADP(+)-dependent isocitrate dehydrogenase status modulates oxidative damage to cellsFree Radic Biol Med200232111185119612031902
- BleekerFEAtaiNALambaSThe prognostic IDH1(R132) mutation is associated with reduced NADP+-dependent IDH activity in glioblastomaActa Neuropathol2010119448749420127344
- DeberardinisRJSayedNDitsworthDThompsonCBBrick by brick: metabolism and tumor cell growthCurr Opin Genet Dev2008181546118387799
- MullenARWheatonWWJinESReductive carboxylation supports growth in tumour cells with defective mitochondriaNature2011481738138538822101431
- MullenARHuZShiXOxidation of alpha-ketoglutarate is required for reductive carboxylation in cancer cells with mitochondrial defectsCell Rep2014751679169024857658
- JiangLShestovAASwainPReductive carboxylation supports redox homeostasis during anchorage-independent growthNature2016532759825525827049945
- IcardPPoulainLLincetHUnderstanding the central role of citrate in the metabolism of cancer cellsBiochim Biophys Acta20121825111111622101401
- HillerKMetalloCMProfiling metabolic networks to study cancer metabolismCurr Opin Biotechnol2013241606823206561
- ZhaoSLinYXuWGlioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alphaScience2009324592426126519359588
- WardPSPatelJWiseDRThe common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarateCancer Cell201017322523420171147
- GrossSCairnsRAMindenMDCancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutationsJ Exp Med2010207233934420142433
- LoenarzCSchofieldCJExpanding chemical biology of 2-oxoglutarate oxygenasesNat Chem Biol20084315215618277970
- NgSSKavanaghKLMcDonoughMACrystal structures of histone demethylase JMJD2A reveal basis for substrate specificityNature20074487149879117589501
- ChowdhuryRYeohKKTianYMThe oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylasesEMBO Rep201112546346921460794
- TsukadaYFangJErdjument-BromageHHistone demethylation by a family of JmjC domain-containing proteinsNature2006439707881181616362057
- KohliRMZhangYTET enzymes, TDG and the dynamics of DNA demethylationNature2013502747247247924153300
- PastorWAAravindLRaoATETonic shift: biological roles of TET proteins in DNA demethylation and transcriptionNat Rev Mol Cell Biol201314634135623698584
- KoivunenPLeeSDuncanCGTransformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activationNature2012483739048448822343896
- NoushmehrHWeisenbergerDJDiefesKIdentification of a CpG island methylator phenotype that defines a distinct subgroup of gliomaCancer Cell201017551052220399149
- BratDJVerhaakRGAldapeKDComprehensive, integrative genomic analysis of diffuse lower-grade gliomasN Engl J Med2015372262481249826061751
- CeccarelliMBarthelFPMaltaTMMolecular profiling reveals biologically discrete subsets and pathways of progression in diffuse gliomaCell2016164355056326824661
- WangFTravinsJDeLaBarreBTargeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiationScience2013340613262262623558173
- RohleDPopovici-MullerJPalaskasNAn inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cellsScience2013340613262663023558169
- KernytskyAWangFHansenEIDH2 mutation-induced histone and DNA hypermethylation is progressively reversed by small-molecule inhibitionBlood2015125229630325398940
- LosmanJALooperREKoivunenP(R)-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects are reversibleScience201333961271621162523393090
- FlavahanWADrierYLiauBBInsulator dysfunction and oncogene activation in IDH mutant gliomasNature2016529758411011426700815
- LuCVennetiSAkalinAInduction of sarcomas by mutant IDH2Genes Dev201327181986199824065766
- KranendijkMStruysEAvan SchaftingenEIDH2 mutations in patients with D-2-hydroxyglutaric aciduriaScience2010330600233620847235
- ChenCLiuYLuCCancer-associated IDH2 mutants drive an acute myeloid leukemia that is susceptible to Brd4 inhibitionGenes Dev201327181974198524065765
- KatsLMReschkeMTaulliRProto-oncogenic role of mutant IDH2 in leukemia initiation and maintenanceCell Stem Cell201414332934124440599
- LetouzéEMartinelliCLoriotCSDH mutations establish a hypermethylator phenotype in paragangliomaCancer Cell201323673975223707781
- GrassianARParkerSJDavidsonSMIDH1 mutations alter citric acid cycle metabolism and increase dependence on oxidative mitochondrial metabolismCancer Res201474123317333124755473
- FuXChinRMVergnesL2-Hydroxyglutarate inhibits ATP synthase and mTOR signalingCell Metab201522350851526190651
- TateishiKWakimotoHIafrateAJExtreme vulnerability of IDH1 mutant cancers to NAD+ depletionCancer Cell201528677378426678339
- HartmannCMeyerJBalssJType and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomasActa Neuropathol2009118446947419554337
- BrennanCWVerhaakRGMcKennaAThe somatic genomic landscape of glioblastomaCell2013155246247724120142
- CapperDWeissertSBalssJCharacterization of R132H mutation-specific IDH1 antibody binding in brain tumorsBrain Pathol201020124525419903171
- BaiHHarmancıASErson-OmayEZIntegrated genomic characterization of IDH1-mutant glioma malignant progressionNat Genet2016481596626618343
- WatanabeTNobusawaSKleihuesPOhgakiHIDH1 mutations are early events in the development of astrocytomas and oligodendrogliomasAm J Pathol200917441149115319246647
- WakimotoHTanakaSCurryWTTargetable signaling pathway mutations are associated with malignant phenotype in IDH-mutant gliomasClin Cancer Res201420112898290924714777
- JohnsonBEMazorTHongCMutational analysis reveals the origin and therapy-driven evolution of recurrent gliomaScience2014343616718919324336570
- SuzukiHAokiKChibaKMutational landscape and clonal architecture in grade II and III gliomasNat Genet201547545846825848751
- LassUNümannAvon EckardsteinKClonal analysis in recurrent astrocytic, oligoastrocytic and oligodendroglial tumors implicates IDH1-mutation as common tumor initiating eventPLoS One201277e4129822844452
- StuppRBradaMvan den BentMJTonnJCPentheroudakisGGroupEGWHigh-grade glioma: ESMO clinical practice guidelines for diagnosis, treatment and follow-upAnn Oncol201425suppl 3iii93iii10124782454
- van den BentMJBrandesAATaphoornMJAdjuvant procarbazine, lomustine, and vincristine chemotherapy in newly diagnosed anaplastic oligodendroglioma: long-term follow-up of EORTC brain tumor group study 26951J Clin Oncol201331334435023071237
- CairncrossGWangMShawEPhase III trial of chemoradiotherapy for anaplastic oligodendroglioma: long-term results of RTOG 9402J Clin Oncol201331333734323071247
- CairncrossJGWangMJenkinsRBBenefit from procarbazine, lomustine, and vincristine in oligodendroglial tumors is associated with mutation of IDHJ Clin Oncol201432878379024516018
- ImAPSehgalARCarrollMPDNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategiesLeukemia20142891774178324699305
- CairnsRAIqbalJLemonnierFIDH2 mutations are frequent in angioimmunoblastic T-cell lymphomaBlood201211981901190322215888
- MolenaarRJThotaSNagataYClinical and biological implications of ancestral and non-ancestral IDH1 and IDH2 mutations in myeloid neoplasmsLeukemia201529112134214225836588
- WelchJSLeyTJLinkDCThe origin and evolution of mutations in acute myeloid leukemiaCell2012150226427822817890
- SolaryEBernardOATefferiAFuksFVainchenkerWThe Ten-Eleven Translocation-2 (TET2) gene in hematopoiesis and hematopoietic diseasesLeukemia201428348549624220273
- FengJHGuoXPChenYYWangZJChengYPTangYMPrognostic significance of IDH1 mutations in acute myeloid leukemia: a meta-analysisAm J Blood Res20122425426423226625
- DöhnerHEsteyEHAmadoriSDiagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNetBlood2010115345347419880497
- MarcucciGMaharryKWuYZIDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a cancer and leukemia group B studyJ Clin Oncol201028142348235520368543
- PeterlinPRennevilleABen AbdelaliRImpact of additional genetic alterations on the outcome of patients with NPM1-mutated cytogenetically normal acute myeloid leukemiaHaematologica20151005e196e19925552703
- PatelJPGönenMFigueroaMEPrognostic relevance of integrated genetic profiling in acute myeloid leukemiaN Engl J Med2012366121079108922417203
- Abdel-WahabOPatelJLevineRLClinical implications of novel mutations in epigenetic modifiers in AMLHematol Oncol Clin North Am20112561119113322093580
- BoisselNNibourelORennevilleAHuchettePDombretHPreud-hommeCDifferential prognosis impact of IDH2 mutations in cytogenetically normal acute myeloid leukemiaBlood2011117133696369721454467
- GreenCLEvansCMZhaoLThe prognostic significance of IDH2 mutations in AML depends on the location of the mutationBlood2011118240941221596855
- LinCCHouHAChouWCIDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolutionAm J Hematol201489213714424115220
- PatnaikMMHansonCAHodnefieldJMDifferential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic study of 277 patientsLeukemia201226110110522033490
- TholFWeissingerEMKrauterJIDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosisHaematologica201095101668167420494930
- LashoTLJimmaTFinkeCMSRSF2 mutations in primary myelofibrosis: significant clustering with IDH mutations and independent association with inferior overall and leukemia-free survivalBlood2012120204168417122968464
- SahaSKParachoniakCAGhantaKSMutant IDH inhibits HNF-4α to block hepatocyte differentiation and promote biliary cancerNature2014513751611011425043045
- CeramiEGaoJDogrusozUThe cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics dataCancer Discov20122540140422588877
- RakhejaDKonoplevSMedeirosLJChenWIDH mutations in acute myeloid leukemiaHum Pathol201243101541155122917530
- FathiATSadrzadehHBorgerDRProspective serial evaluation of 2-hydroxyglutarate, during treatment of newly diagnosed acute myeloid leukemia, to assess disease activity and therapeutic responseBlood2012120234649465223074281
- DiNardoCDPropertKJLorenAWSerum 2-hydroxyglutarate levels predict isocitrate dehydrogenase mutations and clinical outcome in acute myeloid leukemiaBlood2013121244917492423641016
- JaninMMylonasESaadaVSerum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association GroupJ Clin Oncol201432429730524344214
- BorgerDRGoyalLYauTCirculating oncometabolite 2-hydroxyglutarate is a potential surrogate biomarker in patients with isocitrate dehydrogenase-mutant intrahepatic cholangiocarcinomaClin Cancer Res20142071884189024478380
- WillekensCMicolJ-BPoinsignonVSerum 2-Hydroxyglutarate level can predict IDH2 mutation in myeloid sarcomaBlood20151262338353835
- DuranMKamerlingJPBakkerHDvan GennipAHWadmanSKL-2-Hydroxyglutaric aciduria: an inborn error of metabolism?J Inherit Metab Dis1980341091126787330
- CapperDSimonMLanghansCD2-Hydroxyglutarate concentration in serum from patients with gliomas does not correlate with IDH1/2 mutation status or tumor sizeInt J Cancer2012131376676821913188
- LombardiGCoronaGBelluLDiagnostic value of plasma and urinary 2-hydroxyglutarate to identify patients with isocitrate dehydrogenase-mutated gliomaOncologist201520556256725862748
- FathiATNahedBVWanderSAElevation of urinary 2-hydroxyglutarate in IDH-mutant gliomaOncologist201621221421926834160
- ChoiCGanjiSKDeBerardinisRJ2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomasNat Med201218462462922281806
- AndronesiOCKimGSGerstnerEDetection of 2-hydroxyglutarate in IDH-mutated glioma patients by in vivo spectral-editing and 2D correlation magnetic resonance spectroscopySci Transl Med20124116116ra4
- AndronesiOCLoebelFBognerWTreatment response assessment in IDH-mutant glioma patients by non-invasive 3D functional spectroscopic mapping of 2-hydroxyglutarateClin Cancer Res20152271632164126534967
- de la FuenteMIYoungRJRubelJIntegration of 2-hydroxyglutarate-proton magnetic resonance spectroscopy into clinical practice for disease monitoring in isocitrate dehydrogenase-mutant gliomaNeuro Oncol201618228329026691210
- EmirUELarkinSJde PenningtonNNoninvasive quantification of 2-hydroxyglutarate in human gliomas with IDH1 and IDH2 mutationsCancer Res2016761434926669865
- FenauxPMuftiGJHellström-LindbergEAzacitidine prolongs overall survival compared with conventional care regimens in elderly patients with low bone marrow blast count acute myeloid leukemiaJ Clin Oncol201028456256920026804
- KantarjianHMThomasXGDmoszynskaAMulticenter, randomized, open-label, phase III trial of decitabine versus patient choice, with physician advice, of either supportive care or low-dose cytarabine for the treatment of older patients with newly diagnosed acute myeloid leukemiaJ Clin Oncol201230212670267722689805
- DombretHSeymourJFButrymAInternational phase 3 study of azacitidine vs conventional care regimens in older patients with newly diagnosed AML with >30% blastsBlood2015126329129925987659
- DiNardoCDPatelKPGarcia-ManeroGLack of association of IDH1, IDH2 and DNMT3A mutations with outcome in older patients with acute myeloid leukemia treated with hypomethylating agentsLeuk Lymphoma20145581925192924138309
- BentonCBRavandiFAndreeffMCase series of patients with acute myeloid leukemia receiving hypomethylation therapy and retrospectively found to have IDH1 or IDH2 mutationsLeuk Lymphoma20145561431143424033106
- EmadiAFaramandRCarter-CooperBPresence of isocitrate dehydrogenase mutations may predict clinical response to hypomethylating agents in patients with acute myeloid leukemiaAm J Hematol2015905E77E7925651001
- BorodovskyASalmasiVTurcanS5-azacytidine reduces methylation, promotes differentiation and induces tumor regression in a patient-derived IDH1 mutant glioma xenograftOncotarget20134101737174724077805
- TurcanSFabiusAWBorodovskyAEfficient induction of differentiation and growth inhibition in IDH1 mutant glioma cells by the DNMT Inhibitor DecitabineOncotarget20134101729173624077826
- HansenEQuivoronCStraleyKAG-120, an oral, selective, first-in-class, potent inhibitor of mutant IDH1, reduces intracellular 2HG and induces cellular differentiation in TF-1 R132H cells and primary human IDH1 mutant AML patient samples treated Ex VivoBlood20141242137343734
- QuivoronCDavidMStraleyKAG-221, an oral, selective, first-in-class, potent IDH2-R140Q mutant inhibitor, induces differentiation in a Xenotransplant ModelBlood20141242137353735
- SteinEMAltmanJKCollinsRAG-221, an oral, selective, first-in-class, potent inhibitor of the IDH2 mutant metabolic enzyme, induces durable remissions in a phase I study in patients with IDH2 mutation positive advanced hematologic malignanciesBlood201412421115115
- FanBLeKManyakELongitudinal pharmacokinetic/pharmacodynamic profile of AG-120, a potent inhibitor of the IDH1 mutant protein, in a phase 1 study of IDH1-mutant advanced hematologic malignanciesBlood20151262313101310
- DiNardoCde BottonSPollyeaDAMolecular profiling and relationship with clinical response in patients with IDH1 mutation-positive hematologic malignancies receiving AG-120, a first-in-class potent inhibitor of mutant IDH1, in addition to data from the completed dose escalation portion of the phase 1 studyBlood20151262313061306
- SchumacherTBunseLPuschSA vaccine targeting mutant IDH1 induces antitumour immunityNature2014512751432432725043048
- PellegattaSVallettaLCorbettaCEffective immuno-targeting of the IDH1 mutation R132H in a murine model of intracranial gliomaActa Neuropathol Commun20153425849072
- ChanSMThomasDCorces-ZimmermanMRIsocitrate dehydrogenase 1 and 2 mutations induce BCL-2 dependence in acute myeloid leukemiaNat Med201521217818425599133
- KonoplevaMPollyeaDAPotluriJA phase 2 study of ABT-199 (GDC-0199) in patients with acute myelogenous leukemia (AML)Blood201412421118118