IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome

Annals of Hematology

Volumn 91, Issue 4, 2012, Pages 519-525

  Lin, Jiang ^a   Yao, Dong Ming ^a   Qian, Jun ^a   Chen, Qin ^a   Qian, Wei ^a   Li, Yun ^a   Yang, Jing ^a   Wang, Cui Zhu ^a   Chai, Hai Yan ^a   Qian, Zhen ^a   Xiao, Gao Fei ^a   Xu, Wen Rong ^a  

^a JIANGSU UNIVERSITY   (China)

Author keywords

Acute myeloid leukemia; IDH1; IDH2; Mutation; Myelodysplastic syndrome

Indexed keywords

DNA; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 2, HUMAN;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; CANCER PROGNOSIS; CANCER SURVIVAL; CHINESE; CHROMOSOME ANALYSIS; CHRONIC MYELOID LEUKEMIA; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN CELL; IDH1 GENE; IDH2 GENE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE NEOPLASM; OVERALL SURVIVAL; PRIORITY JOURNAL; SURVIVAL TIME; ADOLESCENT; ASIAN; ENZYMOLOGY; GENETICS; KAPLAN MEIER METHOD; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PROGNOSIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ISOCITRATE DEHYDROGENASE; KAPLAN-MEIER ESTIMATE; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; PROGNOSIS; YOUNG ADULT;

EID: 84860791715     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-011-1352-7     Document Type: Article

References (29)

1. Xu X, Zhao J, Xu Z et al (2004) Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity. J Biol Chem 279:33946-33957
2. Sjöblom T, Jones S, Wood LD et al (2006) The consensus coding sequences of human breast and colorectal cancers. Science 314:268-274
3. Parsons DW, Jones S, Zhang X et al (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 321:1807-1812
4. Yan H, Parsons DW, Jin G et al (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360:765-773
5. Zhao S, Lin Y, Xu W et al (2009) Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF- 1alpha. Science 324:261-265
6. Mardis ER, Ding L, Dooling DJ et al (2009) Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 361:1058-1066
7. Ho PA, Alonzo TA, Kopecky KJ et al (2010) Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study. Leukemia 24:909-913
8. Paschka P, Schlenk RF, Gaidzik VI et al (2010) 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
9. Marcucci G, Maharry K, Wu YZ et al (2010) 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
10. Abbas S, Lugthart S, Kavelaars FG et al (2010) Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value. Blood 116:2122-2126
11. Kosmider O, Gelsi-Boyer V, Slama L et al (2010) Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. Leukemia 24:1094-1096
12. Rocquain J, Carbuccia N, Trouplin V et al (2010) 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 10:401
13. Thol F, Weissinger EM, Krauter J et al (2010) IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis. Haematologica 95:1668-1674
14. Tefferi A, Lasho TL, Abdel-Wahab O et al (2010) IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia 24:1302-1309
15. Pardanani A, Lasho TL, Finke CM et al (2010) IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms. Leukemia 24:1146-1151
16. Gelsi-Boyer V, Trouplin V, Roquain J et al (2010) ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol 151:365-375
17. Chou WC, Lei WC, Ko BS et al (2011) The prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia 25:246-253
18. Bennett JM, Catovsky D, Daniel MT et al (1985) Proposed revised criteria for the classification of acute myeloid leukaemia. A report of the French-American-British Cooperative Group. Ann Intern Med 103:620-625
19. Vardiman JW, Thiele J, Arber DA et al (2009) The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 114:937-951
20. Qian J, Lin J, Yao DM et al (2010) Rapid detection of JAK2 V617F mutation using high-resolution melting analysis with LightScanner platform. Clin Chim Acta 410:2097-2100
21. Zou Y, Zeng Y, Zhang DF et al (2010) 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 402:378-383
22. Boisselier B, Marie Y, Labussière M et al (2010) COLD PCR HRM: a highly sensitive detection method for IDH1 mutations. Hum Mutat 31:1360-1365
23. Qian J, Xue Y, Pan J et al (2005) Refractory thrombocytopenia, an unusual myelodysplastic syndrome with initial presentation mimicking an idiopathic thrombocytopenic purpura. Int J Hematol 81:142-147
24. Caramazza D, Lasho TL, Finke CM et al (2010) IDH mutations and trisomy 8 in myelodysplastic syndromes and acute myeloid leukemia. Leukemia 24:2120-2122
25. Thol F, Damm F, Wagner K et al (2010) Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. Blood 116:614-616
26. Dang L, White DW, Gross S et al (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739-744
27. Ward PS, Patel J, Wise DR et al (2010) The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting α-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17:225-234
28. Xu W, Yang H, Liu Y et al (2011) Oncometabolite 2- hydroxyglutarate is a competitive inhibitor of α-ketoglutaratedependent dioxygenases. Cancer Cell 19:17-30
29. Figueroa ME, Abdel-Wahab O, Lu C et al (2010) Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell 18:553-567