Somatic mutations of isocitrate dehydrogenases 1 and 2 are prognostic and follow-up markers in patients with acute myeloid leukaemia with normal karyotype
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Döhner H, Estey EH, Amadori S, Appelbaum FR, Büchner T, Burnett AK, et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European Leukemia Net. Blood 2010; 115: 454-74.DöhnerHEsteyEHAmadoriSAppelbaumFRBüchnerTBurnettAKDiagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European Leukemia Net20101154547410.1182/blood-2009-07-23535819880497Search in Google Scholar
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. ITS Classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008.SwerdlowSHCampoEHarrisNLJaffeESPileriSASteinHLyonIARC Press2008Search in Google Scholar
Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361: 1058-66.MardisERDingLDoolingDJLarsonDEMcLellanMDChenKRecurring mutations found by sequencing an acute myeloid leukemia genome200936110586610.1056/NEJMoa0903840320181219657110Search in Google Scholar
Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA, et al. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting a-ketoglutarate to 2-hydrozyglutarate. Cancer Cell 2010; 17: 225-34.WardPSPatelJWiseDRAbdel-WahabOBennettBDCollerHAThe common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting a-ketoglutarate to 2-hydrozyglutarate2010172253410.1016/j.ccr.2010.01.020284931620171147Search in Google Scholar
Abbas S, Lugthart S, Kavelaars FG, Schelen A, Koenders JE, 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.AbbasSLugthartSKavelaarsFGSchelenAKoendersJEZeilemakerAAcquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value20101162122610.1182/blood-2009-11-25087820538800Search in Google Scholar
Paschka P, Schlenk RF, Gaidzik VI, 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.PaschkaPSchlenkRFGaidzikVIHabdankMKrönkeJBullingerLIDH1 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 duplication20102836364310.1200/JCO.2010.28.376220567020Search in Google Scholar
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.BoisselNNibourelORennevilleAGardinCRemanOContentinNPrognostic impact of isocitrate dehydrogenase enzyme isoforms 1 and 2 mutations in acute myeloid leukemia: a study by the Acute Leukemia French Association group20102837172310.1200/JCO.2010.28.228520625116Search in Google Scholar
Marcucci G, Maharry K, Wu YZ, Radmacher MD, Mrózek K, Margeson D, et al. IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol 2010; 28: 2348-55.MarcucciGMaharryKWuYZRadmacherMDMrózekKMargesonDIDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study20102823485510.1200/JCO.2009.27.3730288171920368543Search in Google Scholar
Zhou KG, Jiang LJ, Shang Z, Wang J, Huang L, Zhou JF, et al. Potential application of IDH1 and IDH2 mutations as prognostic indicators in nonpromyelocytic acute myeloid leukemia: a meta-analysis. Leuk Lymphoma 2012; 53: 2423-29.ZhouKGJiangLJShangZWangJHuangLZhouJFPotential application of IDH1 and IDH2 mutations as prognostic indicators in nonpromyelocytic acute myeloid leukemia: a meta-analysis20125324232910.3109/10428194.2012.69535922616558Search in Google Scholar
Im AP, Sehgal AR, Carroll MP, Smith BD, Tefferi A, Johnson DE, et al. DNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategies. Leukemia 2014; 28: 1774-83.ImAPSehgalARCarrollMPSmithBDTefferiAJohnsonDEDNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategies20142817748310.1038/leu.2014.124423409324699305Search in Google Scholar
Yamaguchi S, Iwanaga E, Tokunaga K, Nanri T, Shimomura T, Suzushima H, et al. IDH1 and IDH2 mutations confer an adverse effect in patients with acute myeloid leukemia lacking the NPM1 mutation. Eur J Haematol 2014; 92: 471-7.YamaguchiSIwanagaETokunagaKNanriTShimomuraTSuzushimaHIDH1 and IDH2 mutations confer an adverse effect in patients with acute myeloid leukemia lacking the NPM1 mutation201492471710.1182/blood.V122.21.4977.4977Search in Google Scholar
Chotirat S, Thongnoppakhun W, Promsuwicha O, Boonthimat C, Auewarakul CU. 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.ChotiratSThongnoppakhunWPromsuwichaOBoonthimatCAuewarakulCUMolecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients20125510.1186/1756-8722-5-5332052922397365Search in Google Scholar
Thol F, Damm F, Wagner K, Göhring G, Schlegelberger B, Hoelzer D, et al. Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. Blood 2010; 116: 614-6.TholFDammFWagnerKGöhringGSchlegelbergerBHoelzerDPrognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia2010116614610.1182/blood-2010-03-27214620421455Search in Google Scholar
Wagner K, Damm F, Göhring G, Görlich K, Heuser M, Schäfer I, et al. Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor. J Clin Oncol 2010; 28: 2356-64.WagnerKDammFGöhringGGörlichKHeuserMSchäferIImpact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor20102823566410.1200/JCO.2009.27.689920368538Search in Google Scholar
Chou WC, Hou HA, Chen CY, Tang JL, Yao M, Tsay W, et al. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. Blood 2010; 115: 2749-54.ChouWCHouHAChenCYTangJLYaoMTsayWDistinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation201011527495410.1182/blood-2009-11-25307020097881Search in Google Scholar
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.SchnittgerSHaferlachCUlkeMAlpermannTKernWHaferlachTIDH1 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 status201011654869610.1182/blood-2010-02-26795520805365Search in Google Scholar
Nomdedéu J, Hoyos M, Carricondo M, Esteve J, Bussaglia E, Estivill C, et al. Adverse impact of IDH1 and IDH2 mutations in primary AML: experience of the Spanish CETLAM group. Leuk Res 2012; 36: 990-7.NomdedéuJHoyosMCarricondoMEsteveJBussagliaEEstivillCAdverse impact of IDH1 and IDH2 mutations in primary AML: experience of the Spanish CETLAM group201236990710.1016/j.leukres.2012.03.01922520341Search in Google Scholar
Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012; 366: 1079-89.PatelJPGönenMFigueroaMEFernandezHSunZRacevskisJPrognostic relevance of integrated genetic profiling in acute myeloid leukemia201236610798910.1056/NEJMoa1112304354564922417203Search in Google Scholar
Patel JP, Ravandi F, Ma D, Paladugu A, Barkoh BA, Medeiros LJ, et al. Acute myeloid leukemia with IDH1 or IDH2 mutation: frequency and clinicpatho-logic features. Am J Clin Pathol 2011; 135: 35-45.PatelJPRavandiFMaDPaladuguABarkohBAMedeirosLJAcute myeloid leukemia with IDH1 or IDH2 mutation: frequency and clinicpatho-logic features2011135354510.1309/AJCPD7NR2RMNQDVF546595421173122Search in Google Scholar
Ravandi F, Patel K, Luthra R, Faderl S, Konopleva M, Kadia T, et al. Prognostic significance of alterations in IDH enzyme isoforms in patients with AML treated with high-dose cytarabine and idarubicin. Cancer 2012; 118: 2665-73.RavandiFPatelKLuthraRFaderlSKonoplevaMKadiaTPrognostic significance of alterations in IDH enzyme isoforms in patients with AML treated with high-dose cytarabine and idarubicin201211826657310.1002/cncr.26580406015722020636Search in Google Scholar
Chou WC, Lei WC, Ko BS, Hou HA, Chen CY, Tang JL, et al. The prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia 2011; 25: 246-53.ChouWCLeiWCKoBSHouHAChenCYTangJLThe prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia2011252465310.1038/leu.2010.26721079611Search in Google Scholar
Chou WC, Peng KY, Lei WC, Ko BS, Tsay W, Kuo CH, et al. Persistence of mutant isocitrate dehydrogenase in patients with acute myeloid leukemia in remission. Leukemia 2012; 26: 527-9.ChouWCPengKYLeiWCKoBSTsayWKuoCHPersistence of mutant isocitrate dehydrogenase in patients with acute myeloid leukemia in remission201226527910.1038/leu.2011.21521844873Search in Google Scholar
Jeziskova I, Razga F, Bajerova M, Racil Z, Mayer J, Dvorakova D. IDH2 mutations in patients with acute myeloid leukemia: missense p.R140 mutations are linked to disease status. Leuk Lymphoma 2010; 51: 2285-7.JeziskovaIRazgaFBajerovaMRacilZMayerJDvorakovaDIDH2 mutations in patients with acute myeloid leukemia: missense p.R140 mutations are linked to disease status2010512285710.3109/10428194.2010.52312620929327Search in Google Scholar
Kuzmanovic M, Tosic N, Colovic N, Karan-Djurasevic T, Spasovski V, Radmilovic M, et al. Prognostic impact of NPM1 mutations in Serbian adult patients with acute myeloid leukemia. Acta Haematol 2012; 128: 203-12.KuzmanovicMTosicNColovicNKaran-DjurasevicTSpasovskiVRadmilovicMPrognostic impact of NPM1 mutations in Serbian adult patients with acute myeloid leukemia20121282031210.1159/00033950622906848Search in Google Scholar
Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group. Ann Intern Med 1985; 103: 620-5.BennettJMCatovskyDDanielMTFlandrinGGaltonDAGralnickHRProposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group1985103620510.7326/0003-4819-103-4-6203862359Search in Google Scholar
Shaffer LG, Slovak ML, Campbell LJ. An international system for human cytogenetic nomenclature. Basel: Karger; 2009.ShafferLGSlovakMLCampbellLJBaselKarger2009Search in Google Scholar
Sorror ML, Marris MB, Storb R, Baron F, Sandmaier BM, Maloney DG, et al. Hematopoetic cell transplantation (HCT)-specific comorbidity index: a new tool for risk assessment before allogenic HCT. Blood 2005; 106: 2912-9.SorrorMLMarrisMBStorbRBaronFSandmaierBMMaloneyDGHematopoetic cell transplantation (HCT)-specific comorbidity index: a new tool for risk assessment before allogenic HCT20051062912910.1182/blood-2005-05-2004189530415994282Search in Google Scholar
Oken MM, Creech RH, Tormey DC, Horton J, Davis TE, McFadden ET, et al. Toxicity and response criteria of the Eastern Cooperative Oncology Group. Am J Clin Oncol 1982; 5: 649-55.OkenMMCreechRHTormeyDCHortonJDavisTEMcFaddenETToxicity and response criteria of the Eastern Cooperative Oncology Group198256495510.1097/00000421-198212000-00014Search in Google Scholar
Cheson BD, Bennet JM, Kopecky KJ, Buchner T, Willman CL, Estey EH, et al. International Working Group for diagnosis, standardization of response criteria, treatment outcomes, and reporting standards for therapeutic trials in acute myeloid leukemia. Revised recommendations of the international working group for diagnosis, standardization of response criteria, treatment outcome, and reporting standards for therapeutic trials in acute myeloid leukemia. J Clin Oncol 2003; 21: 4642-9.ChesonBDBennetJMKopeckyKJBuchnerTWillmanCLEsteyEHInternational Working Group for diagnosis, standardization of response criteria, treatment outcomes, and reporting standards for therapeutic trials in acute myeloid leukemia. Revised recommendations of the international working group for diagnosis, standardization of response criteria, treatment outcome, and reporting standards for therapeutic trials in acute myeloid leukemia2003214642910.1200/JCO.2003.04.03614673054Search in Google Scholar
Kiyoi H, Naoe T, Yokota S, Nakao M, Minami S, Kuriyama K, et al. Internal tandem duplication of FLT3 associated with leukocytosis in acute promyelocytic leukemia. Leukemia Study Group of the Ministry of Health and Welfare (Kohseisho). Leukemia 1997; 11: 1447-52.KiyoiHNaoeTYokotaSNakaoMMinamiSKuriyamaKInternal tandem duplication of FLT3 associated with leukocytosis in acute promyelocytic leukemia. Leukemia Study Group of the Ministry of Health and Welfare (Kohseisho)19971114475210.1038/sj.leu.24007569305596Search in Google Scholar
Yamamoto Y, Kiyoi H, Nakano Y, Suzuki R, Kodera Y, Miyawaki S, et al. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood 2001; 97: 2434-9.YamamotoYKiyoiHNakanoYSuzukiRKoderaYMiyawakiSActivating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies2001972434910.1182/blood.V97.8.243411290608Search in Google Scholar
Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, et al. GIMEMA Acute Leukemia Working Party: cytolasmatic nucleophosmin in acute myelogenous leukemia with normal karyotype. N Engl J Med 2005; 352: 254-66.FaliniBMecucciCTiacciEAlcalayMRosatiRPasqualucciLGIMEMA Acute Leukemia Working Party: cytolasmatic nucleophosmin in acute myelogenous leukemia with normal karyotype20053522546610.1056/NEJMoa04197415659725Search in Google Scholar
Figueroa ME, Abdel-Wahab O, Lu C, Ward PS, 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.FigueroaMEAbdel-WahabOLuCWardPSPatelJShihALeukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation2010185536710.1016/j.ccr.2010.11.015410584521130701Search in Google Scholar
Kelly LM, Gilliland DG. Genetics of myeloid leukemias. Annu Rev Genomics Hum Genet 2002; 3: 179-98.KellyLMGillilandDGGenetics of myeloid leukemias200231799810.1146/annurev.genom.3.032802.11504612194988Search in Google Scholar
Fröhling S, Scholl C, Gilliland DG, Levine RL. Genetics of myeloid malignancies: pathogenetic and clinical implications. J Clin Oncol 2005; 23: 6285-95.FröhlingSSchollCGillilandDGLevineRLGenetics of myeloid malignancies: pathogenetic and clinical implications20052362859510.1200/JCO.2005.05.01016155011Search in Google Scholar
Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med 2010; 362: 369-70.GreenABeerPSomatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms20103623697010.1056/NEJMc091006320107228Search in Google Scholar
Chotirat S, Thongnoppakhun W, Wanachiwanawin W, Auewarakul CU. Acquired somatic mutations of isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) in preleukemic disorders. Blood Cells Mol Dis 2015; 54: 286-91.ChotiratSThongnoppakhunWWanachiwanawinWAuewarakulCUAcquired somatic mutations of isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) in preleukemic disorders2015542869110.1016/j.bcmd.2014.11.01725486927Search in Google Scholar
Abdel-Wahab O, Manshouri T, Patel J, Harris K, Yao J, Hedvat C, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res 2010; 70: 447-52.Abdel-WahabOManshouriTPatelJHarrisKYaoJHedvatCGenetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias2010704475210.1158/0008-5472.CAN-09-3783294734020068184Search in Google Scholar
Tefferi A, Jimma T, Sulai NH, Lasho TL, Finke CM, Knudson RA, et al. IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2 V617F. Leukemia 2012; 26: 475-80.TefferiAJimmaTSulaiNHLashoTLFinkeCMKnudsonRAIDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2 V617F2012264758010.1038/leu.2011.253330613721912393Search in Google Scholar
Gross S, Cairns RA, Minden MD, Driggers EM, Bittinger MA, Jang HG, et al. Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med 2010; 207: 339-44.GrossSCairnsRAMindenMDDriggersEMBittingerMAJangHGCancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations20102073394410.1084/jem.20092506282260620142433Search in Google Scholar