Adverse impact of IDH1 and IDH2 mutations in primary AML: Experience of the Spanish CETLAM group

Leukemia Research

Volumn 36, Issue 8, 2012, Pages 990-997

  Nomdedeu J ^a   Hoyos, M ^a   Carricondo, M ^a   Esteve, J ^b   Bussaglia, E ^a   Estivill, C ^a   Ribera, J M ^c   Duarte, R ^d   Salamero, O ^e   Gallardo, D ^f   Pedro, C ^g   Aventin, A ^a   Brunet, S ^a   Sierra, J ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f HOSPITAL JOSEP TRUETA   (Spain)

^g HOSPITAL DEL MAR   (Spain)

Author keywords

Acute myeloid leukemia; Genetics; IDH1; IDH2; Molecular biology; Prognosis

Indexed keywords

CYTARABINE; ETOPOSIDE; GRANULOCYTE COLONY STIMULATING FACTOR; IDARUBICIN; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; MITOXANTRONE;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ARTICLE; CANCER COMBINATION CHEMOTHERAPY; CEBPA GENE; COHORT ANALYSIS; CONTROLLED STUDY; CYTOGENETICS; DRUG EFFICACY; DRUG MEGADOSE; DRUG SAFETY; FEMALE; FLT3 GENE; GENE FREQUENCY; GENE MUTATION; HUMAN; IDH1 GENE; IDH2 GENE; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MLL GENE; NPM GENE; ONCOGENE; OVERALL SURVIVAL; PRIORITY JOURNAL; PYROSEQUENCING; TET2 GENE; WT1 GENE;

ADOLESCENT; ADULT; AGED; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HUMANS; ISOCITRATE DEHYDROGENASE; KARYOTYPE; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; PROGNOSIS; RETROSPECTIVE STUDIES; SPAIN; SURVIVAL ANALYSIS; YOUNG ADULT;

EID: 84862538041     PISSN: 01452126     EISSN: 18735835     Source Type: Journal    
DOI: 10.1016/j.leukres.2012.03.019     Document Type: Article

References (36)

1. Schlenk R.F., Dohner K., Krauter J., Frohling S., Corbacioglu A., Bullinger L., et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med 2008, 358(May (18)):1909-1918.
2. Parsons D.W., Jones S., Zhang X., Lin J.C., Leary R.J., Angenendt P., et al. An integrated genomic analysis of human glioblastoma multiforme. Science 2008, 321(September (5897)):1807-1812.
3. Watanabe T., Nobusawa S., Kleihues P., Ohgaki H. IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. Am J Pathol 2009, 174(April (4)):1149-1153.
4. Mardis E.R., Ding L., Dooling D.J., Larson D.E., McLellan M.D., Chen K., et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009, 361(September (11)):1058-1066.
5. Green A., Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med 2010, 362(January (4)):369-370.
6. Pardanani A., Patnaik M.M., Lasho T.L., Mai M., Knudson R.A., Finke C., et al. Recurrent IDH mutations in high-risk myelodysplastic syndrome or acute myeloid leukemia with isolated del(5q). Leukemia 2010, 24(July (7)):1370-1372.
7. Soverini S., Score J., Iacobucci I., Poerio A., Lonetti A., Gnani A., et al. IDH2 somatic mutations in chronic myeloid leukemia patients in blast crisis. Leukemia 2010, 25(January (1)):178-181.
8. Tefferi A., Lasho T.L., 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(July (7)):1302-1309.
9. Dang L., White D.W., Gross S., Bennett B.D., Bittinger M.A., Driggers E.M., et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 2009, 462(December (7274)):739-744.
10. Gross S., Cairns R.A., Minden M.D., Driggers E.M., Bittinger M.A., Jang H.G., et al. Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med 2010, 207(February (2)):339-344.
11. Ward P.S., Patel J., Wise D.R., Abdel-Wahab O., Bennett B.D., Coller H.A., 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(March (3)):225-234.
12. 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(March (3)):1395-1402.
13. Figueroa M.E., Abdel-Wahab O., Lu C., Ward P.S., 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 2007, 18(December (6)):553-567.
14. Xu W., Yang H., Liu Y., Yang Y., Wang P., Kim S.H., et al. Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of alpha-ketoglutarate-dependent dioxygenases. Cancer Cell 2011, 19(January (1)):17-30.
15. Carnicer M.J., Lasa A., Buschbeck M., Serrano E., Carricondo M., Brunet S., et al. K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML). Ann Hematol 2008, 87(October (10)):819-827.
16. Munoz L., Nomdedeu J.F., Villamor N., Guardia R., Colomer D., Ribera J.M., et al. Acute myeloid leukemia with MLL rearrangements: clinicobiological features, prognostic impact and value of flow cytometry in the detection of residual leukemic cells. Leukemia 2003, 17(January (1)):76-82.
17. Nomdedeu J., Bussaglia E., Villamor N., Martinez C., Esteve J., Tormo M., et al. Immunophenotype of acute myeloid leukemia with NPM mutations: prognostic impact of the leukemic compartment size. Leuk Res 2010, 35(February (2)):163-168.
18. Horbinski C., Kelly L., Nikiforov Y.E., Durso M.B., Nikiforova M.N. Detection of IDH1 and IDH2 mutations by fluorescence melting curve analysis as a diagnostic tool for brain biopsies. J Mol Diagn 2010, 12(July (4)):487-492.
19. Langemeijer S.M., Kuiper R.P., Berends M., Knops R., Aslanyan M.G., Massop M., et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009, 41(July (7)):838-842.
20. Delhommeau F., Dupont S., Della Valle V., James C., Trannoy S., Masse A., et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009, 360(May (22)):2289-2301.
21. Metzeler K.H., Maharry K., Radmacher M.D., Mrozek K., Margeson D., Becker H., et al. TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a cancer and leukemia Group B study. J Clin Oncol 2011, 29(April (10)):1373-1381.
22. Nibourel O., Kosmider O., Cheok M., Boissel N., Renneville A., Philippe N., et al. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission. Blood 2010, 116(August (7)):1132-1135.
23. Jordan C.T. Unique molecular and cellular features of acute myelogenous leukemia stem cells. Leukemia 2002, 16(April (4)):559-562.
24. Jordan C.T., Upchurch D., Szilvassy S.J., Guzman M.L., Howard D.S., Pettigrew A.L., et al. The interleukin-3 receptor alpha chain is a unique marker for human acute myelogenous leukemia stem cells. Leukemia 2000, 14(October (10)):1777-1784.
25. Abdel-Wahab O., Levine R.L. Metabolism and the leukemic stem cell. J Exp Med 2010, 207(April (4)):677-680.
26. Boissel N., Nibourel O., Renneville A., Huchette P., Dombret H., Preudhomme C. Differential prognosis impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. Blood 2011, 117(March (13)):3696-3697.
27. Marcucci G., Maharry K., Wu Y.Z., Radmacher M.D., Mrozek 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(May (14)):2348-2355.
28. Oki K., Takita J., Hiwatari M., Nishimura R., Sanada M., Okubo J., et al. IDH1 and IDH2 mutations are rare in pediatric myeloid malignancies. Leukemia 2011, 25(February (2)):382-384.
29. Green C.L., Evans C.M., Hills R.K., Burnett A.K., Linch D.C., Gale R.E. The prognostic significance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ITD status. Blood 2010, 116(October (15)):2779-2782.
30. Abbas S., Lugthart S., Kavelaars F.G., Schelen A., Koenders J.E., 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(September (12)):2122-2126.
31. Chou W.C., Huang H.H., Hou H.A., Chen C.Y., Tang J.L., Yao M., et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood 2010, 116(November (20)):4086-4094.
32. Chou W.C., Lei W.C., Ko B.S., Hou H.A., Chen C.Y., Tang J.L., et al. The prognostic impact and stability of isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia 2010, 25(February (2)):246-253.
33. 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(August (23)):3717-3723.
34. Paschka P., Schlenk R.F., Gaidzik V.I., Habdank M., Kronke 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(August (22)):3636-3643.
35. Green C.L., Evans C.M., Zhao L., Hills R.K., Burnett A.K., Linch D.C., et al. The prognostic significance of IDH2 mutations in AML depends on the location of the mutation. Blood 2011, 118(July (2)):409-412.
36. Noordermeer S.M., Tonnissen E., Vissers I., van der Heijden A., van de Locht L.T., Deutz-Terlouw P.P., et al. Rapid identification of IDH1 and IDH2 mutations in acute myeloid leukaemia using high resolution melting curve analysis. Br J Hematol 2010, 152(February (4)):493-496.