Serum 2-hydroxyglutarate production in IDH1- And IDH2-mutated de novo acute myeloid leukemia: A study by the acute leukemia french association group

Journal of Clinical Oncology

Volumn 32, Issue 4, 2014, Pages 297-305

  Janin, Maxime ^a,b   Mylonas, Elena ^d,e   Saada, Véronique ^d   Micol, Jean Baptiste ^d   Renneville, Aline ^f   Quivoron, Cyril ^d,e   Koscielny, Serge ^d   Scourzic, Laurianne ^d,e   Forget, Sébastien ^d   Pautas, Cécile ^g   Caillot, Denis ^h   Preudhomme, Claude ^f   Dombret, Hervé ^c   Berthon, Céline ^f   Barouki, Robert ^a,b   Rabier, Daniel ^a   Auger, Nathalie ^d   Griscelli, Frank ^d   Chachaty, Elisabeth ^d   Leclercq, Edwige ^d   Courtier, Marie Hél̀ene ^d   Bennaceur Griscelli, Annelise ^d   Solary, Eric ^d   Bernard, Olivier Adrien ^d,e   Penard Lacronique, Virginie ^d,e   Ottolenghi, Chris ^a,b,e   De Botton, Stéphane ^d,e   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d INSTITUT GUSTAVE ROUSSY   (France)

^e UNIVERSITÉ PARIS SACLAY   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g HENRI MONDOR HOSPITAL   (France)

^h DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; CYTARABINE; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; NUCLEOPHOSMIN; WT1 PROTEIN; ALPHA-HYDROXYGLUTARATE; GLUTARIC ACID DERIVATIVE; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 2, HUMAN; NUCLEAR PROTEIN; TUMOR MARKER; WT1 PROTEIN, HUMAN;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ALLELE; AREA UNDER THE CURVE; ARTICLE; CANCER DIAGNOSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DISEASE FREE SURVIVAL; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; INDUCTION CHEMOTHERAPY; LEUKEMIA RELAPSE; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; MEDICAL SOCIETY; MINIMAL RESIDUAL DISEASE; OVERALL SURVIVAL; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; STEREOISOMERISM; BLOOD; FRANCE; GENETICS; KAPLAN MEIER METHOD; MIDDLE AGED; MULTICENTER STUDY; MUTATION; PREDICTIVE VALUE; PROGNOSIS;

ADULT; AGED; AREA UNDER CURVE; FEMALE; FRANCE; GLUTARATES; HUMANS; ISOCITRATE DEHYDROGENASE; KAPLAN-MEIER ESTIMATE; LEUKEMIA, MYELOID, ACUTE; MALE; MASS SPECTROMETRY; MIDDLE AGED; MUTATION; NEOPLASM, RESIDUAL; NUCLEAR PROTEINS; PREDICTIVE VALUE OF TESTS; PROGNOSIS; ROC CURVE; SENSITIVITY AND SPECIFICITY; STEREOISOMERISM; TUMOR MARKERS, BIOLOGICAL; WT1 PROTEINS;

EID: 84895821588     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2013.50.2047     Document Type: Article

References (31)

1. Dang L, White DW, Gross S, et al: Cancerassociated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739-744, 2009
2. Figueroa ME, Abdel-Wahab O, Lu C, et al: Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell 18:553-567, 2010
3. Chowdhury R, Yeoh KK, Tian YM, et al: The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases. EMBO Rep 12:463-469, 2011
4. Lu C, Ward PS, Kapoor GS, et al: IDH mutation impairs histone demethylation and results in a block to cell differentiation. Nature 483:474-478, 2012
5. Sasaki M, Knobbe CB, Munger JC, et al: IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics. Nature 488:656-659, 2012
6. Akalin A, Garrett-Bakelman FE, Kormaksson M, et al: Base-pair resolution DNA methylation sequencing reveals profoundly divergent epigenetic landscapes in acute myeloid leukemia. PLoS Genet 8:e1002781, 2012
7. Mardis ER, Ding L, Dooling DJ, et al: Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 361:1058-1066, 2009
8. Marcucci G, Maharry K, Wu YZ, 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 28:2348-2355, 2010
9. Patel KP, Ravandi F, Ma D, et al: Acute myeloid leukemia with IDH1 or IDH2 mutation: Frequency and clinicopathologic features. Am J Clin Pathol 135:35-45, 2011
10. Welch JS, Ley TJ, Link DC, et al: The origin and evolution of mutations in acute myeloid leukemia. Cell 150:264-278, 2012
11. Boissel N, Nibourel O, Renneville A, 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 28:3717-3723, 2010
12. Paschka P, Schlenk RF, Gaidzik VI, 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 28:3636-3643, 2010
13. Patel JP, Gönen M, Figueroa ME, et al: Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 366:1079- 1089, 2012
14. 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 207:339-344, 2010
15. Sellner L, Capper D, Meyer J, et al: Increased levels of 2-hydroxyglutarate in AML patients with IDH1-R132H and IDH2-R140Q mutations. Eur J Haematol 85:457-459, 2010
16. 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 Isocitrate dehydrogenase 1 and 2 mutations in cancer: Alterations at a crossroads of cellular metabolism. Cancer Cell 17:225-234, 2010
17. Capper D, Simon M, Langhans CD, et al: 2-Hydroxyglutarate concentration in serum from patients with gliomas does not correlate with IDH1/2 mutation status or tumor size. Int J Cancer 131:766- 768, 2012
18. Fathi AT, Sadrzadeh H, Borger DR, et al: Prospective serial evaluation of 2-hydroxyglutarate, during treatment of newly diagnosed acute myeloid leukemia, to assess disease activity and therapeutic response. Blood 120:4649-4652, 2012
19. Balss J, Pusch S, Beck AC, et al: Enzymatic assay for quantitative analysis of (D)-2-hydroxyglutarate. Acta Neuropathol 124:883-891, 2012
20. Castaigne S, Pautas C, Terré C, et al: Effect of gemtuzumab ozogamicin on survival of adult patients with de-novo acute myeloid leukaemia (ALFA-0701): A randomised, open-label, phase 3 study. Lancet 379:1508-1516, 2012
21. Thomas X, Raffoux E, Botton Sd, et al: Effect of priming with granulocyte-macrophage colonystimulating factor in younger adults with newly diagnosed acute myeloid leukemia: A trial by the Acute Leukemia French Association (ALFA) Group. Leukemia 21:453-461, 2007
22. Pautas C, Merabet F, Thomas X, et al: Randomized study of intensified anthracycline doses for induction and recombinant interleukin-2 for maintenance in patients with acute myeloid leukemia age 50 to 70 years: Results of the ALFA-9801 study. J Clin Oncol 28:808-814, 2010
23. Gorello P, Cazzaniga G, Alberti F, et al: Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations. Leukemia 20:1103-1108, 2006 (Pubitemid 43797304)
24. Cilloni D, Renneville A, Hermitte F, et al: Real-time quantitative polymerase chain reaction detection of minimal residual disease by standardized WT1 assay to enhance risk stratification in acute myeloid leukemia: A European LeukemiaNet study. J Clin Oncol 27:5195-5201, 2009
25. Duran M, Kamerling JP, Bakker HD, et al: L-2-hydroxyglutaric aciduria: An inborn error of metabolism? J Inherit Metab Dis 3:109-112, 1980 (Pubitemid 11178536)
26. Wagner K, Damm F, Göhring G, 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 28:2356-2364, 2010
27. Ward PS, Cross JR, Lu C, et al: Identification of additional IDH mutations associated with oncometabolite R(-)-2-hydroxyglutarate production. Oncogene 31:2491-2498, 2012
28. Tefferi A, Lasho TL, Abdel-Wahab O, et al: IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia 24:1302-1309, 2010
29. Hussein K, Engelhardt BM, Kreipe H, et al: IDH mutation analysis is not suitable for the routine molecular diagnostic algorithm in myeloproliferative and myelodysplastic neoplasms. Blood 116:5073-5074, 2010
30. Wang P, Dong Q, Zhang C, et al: Mutations in isocitrate dehydrogenase 1 and 2 occur frequently in intrahepatic cholangiocarcinomas and share hypermethylation targets with glioblastomas. Oncogene 32:3091-3100, 2012
31. Losman JA, Looper R, Koivunen P, et al: (R)-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects are reversible. Science 339:1621-1625, 2013