Deletions of the transcription factor Ikaros in myeloproliferative neoplasms

Leukemia

Volumn 24, Issue 7, 2010, Pages 1290-1298

  Jager R ^a   Gisslinger, H ^b   Passamonti, F ^c   Rumi, E ^c   Berg, T ^a   Gisslinger, B ^b   Pietra, D ^c   Harutyunyan, A ^a   Klampfl, T ^a   Olcaydu, D ^a   Cazzola, M ^c   Kralovics, R ^a,b  

^a ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY OF PAVIA   (Italy)

Author keywords

acute myeloid leukemia; IKZF1; JAK2 V617F; monosomy 7; MPL W515L; oncogene; tumor suppressor

Indexed keywords

IKAROS TRANSCRIPTION FACTOR; IKZF1 PROTEIN, HUMAN; JAK2 PROTEIN, HUMAN; JANUS KINASE 2; MESSENGER RNA; MPL PROTEIN, HUMAN; STAT5 PROTEIN; THROMBOPOIETIN RECEPTOR; TUMOR MARKER;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ARTICLE; CELL SELECTION; GENE DELETION; GENETIC ANALYSIS; GENOMICS; HUMAN; HUMAN CELL; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MONOSOMY 7; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE; ANIMAL; C57BL MOUSE; CELL CULTURE; CHROMOSOME 7; DNA MICROARRAY; GENE DOSAGE; GENE EXPRESSION PROFILING; GENETICS; HETEROZYGOSITY LOSS; METABOLISM; MOUSE; MUTATION; MYELOPROLIFERATIVE DISORDER; PHOSPHORYLATION; POLYMERASE CHAIN REACTION; STEM CELL;

ANIMALS; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 7; GENE DELETION; GENE DOSAGE; GENE EXPRESSION PROFILING; HUMANS; IKAROS TRANSCRIPTION FACTOR; JANUS KINASE 2; LOSS OF HETEROZYGOSITY; MICE; MICE, INBRED C57BL; MUTATION; MYELOPROLIFERATIVE DISORDERS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHOSPHORYLATION; POLYMERASE CHAIN REACTION; RECEPTORS, THROMBOPOIETIN; RNA, MESSENGER; STAT5 TRANSCRIPTION FACTOR; STEM CELLS; TUMOR MARKERS, BIOLOGICAL;

EID: 77954661062     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2010.99     Document Type: Article

References (42)

1. Campbell P, Green A. The myeloproliferative disorders. N Engl J Med 2006;355:2452-2466.
2. Kralovics R. Genetic complexity of myeloproliferative neoplasms. Leukemia 2008;22:1841-1848.
3. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005;434:1144-1148. (Pubitemid 40663494)
4. Kralovics R, Passamonti F, Buser A, Teo S, Tiedt R, Passweg J et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779-1790. (Pubitemid 40570926)
5. Levine R, Wadleigh M, Cools J, Ebert B, Wernig G, Huntly B et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005;7:387-397.
6. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365:1054-1061.
7. Scott L, Tong W, Levine R, Scott M, Beer P, Stratton M et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007;356:459-468. (Pubitemid 46193073)
8. Pietra D, Li S, Brisci A, Passamonti F, Rumi E, Theocharides A et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 2008;111:1686-1689.
9. Pikman Y, Lee B, Mercher T, McDowell E, Ebert B, Gozo M et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006;3: e270.
10. Pardanani A, Levine R, Lasho T, Pikman Y, Mesa R, Wadleigh M et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006;108:3472-3476.
11. Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009;113:6182-6192.
12. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009;360:2289-2301.
13. Wolanskyj A, Lasho T, Schwager S, McClure R, Wadleigh M, Lee S et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005;131:208-213.
14. Theocharides A, Boissinot M, Girodon F, Garand R, Teo S, Lippert E et al. Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood 2007;110:375-379.
15. Campbell PJ, Baxter EJ, Beer PA, Scott LM, Bench AJ, Huntly BJ et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood 2006;108:3548-3555.
16. 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;70:447-452.
17. Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med 2010;362:369-370.
18. 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;361:1058-1066.
19. Kralovics R, Teo SS, Li S, Theocharides A, Buser AS, Tichelli A et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood 2006;108:1377-1380.
20. Olcaydu D, Harutyunyan A, Jäger R, Berg T, Gisslinger B, Pabinger I et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet 2009;41:450-454.
21. Moffat J, Grueneberg DA, Yang X, Kim SY, Kloepfer AM, Hinkle G et al. A lentiviral RNAi library for human and mouse genes applied to an arrayed viral high-content screen. Cell 2006;124:1283-1298.
22. Zufferey R, Nagy D, Mandel RJ, Naldini L, Trono D. Multiply attenuated lentiviral vector achieves efficient gene delivery in vivo. Nat Biotechnol 1997;15:871-875.
23. Georgopoulos K, Bigby M, Wang J, Molnar A, Wu P, Winandy S et al. The Ikaros gene is required for the development of all lymphoid lineages. Cell 1994;79:143-156.
24. Winandy S, Wu P, Georgopoulos K. A dominant mutation in the Ikaros gene leads to rapid development of leukemia and lymphoma. Cell 1995;83:289-299.
25. Wang J, Nichogiannopoulou A, Wu L, Sun L, Sharpe A, Bigby M et al. Selective defects in the development of the fetal and adult lymphoid system in mice with an Ikaros null mutation. Immunity 1996;5:537-549.
26. Kano G, Morimoto A, Takanashi M, Hibi S, Sugimoto T, Inaba T et al. Ikaros dominant negative isoform (Ik6) induces IL-3-independent survival of murine pro-B lymphocytes by activating JAK-STAT and up-regulating Bcl-xl levels. Leuk Lymphoma 2008;49:965-973.
27. Georgopoulos K, Moore D, Derfler B. Ikaros, an early lymphoidspecific transcription factor and a putative mediator for T cell commitment. Science 1992;258:808-812.
28. Kirstetter P, Thomas M, Dierich A, Kastner P, Chan S. Ikaros is critical for B cell differentiation and function. Eur J Immunol 2002;32:720-730.
29. Lopez RA, Schoetz S, DeAngelis K, O'Neill D, Bank A. Multiple hematopoietic defects and delayed globin switching in Ikaros null mice. Proc Natl Acad Sci USA 2002;99:602-607.
30. Mullighan C, Miller C, Radtke I, Phillips L, Dalton J, Ma J et al. BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros. Nature 2008;453:110-114.
31. Iacobucci I, Storlazzi C, Cilloni D, Lonetti A, Ottaviani E, Soverini S et al. Identification and molecular characterization of recurrent genomic deletions on 7p12 in the IKZF1 gene in a large cohort of BCR-ABL1-positive acute lymphoblastic leukemia patients: on behalf of Gruppo Italiano Malattie Ematologiche dell'Adulto Acute Leukemia Working Party (GIMEMA AL WP). Blood 2009;114:2159-2167.
32. Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1, 612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 1998;92:2322-2333.
33. Mesa R, Li C, Ketterling R, Schroeder G, Knudson R, Tefferi A. Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood 2005;105:973-977.
34. Mullighan C, Su X, Zhang J, Radtke I, Phillips L, Miller C et al. Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med 2009;360:470-480.
35. Martinelli G, Iacobucci I, Storlazzi C, Vignetti M, Paoloni F, Cilloni D et al. IKZF1 (Ikaros) deletions in BCR-ABL1-positive acute lymphoblastic leukemia are associated with short diseasefree survival and high rate of cumulative incidence of relapse: a GIMEMA AL WP report. J Clin Oncol 2009;27:5202-5207.
36. Luna-Fineman S, Shannon KM, Lange BJ. Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Blood 1995;85:1985-1999.
37. Lacronique V, Boureux A, Valle V, Poirel H, Quang C, Mauchauffé M et al. A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science 1997;278:1309-1312.
38. Reiter A, Walz C, Watmore A, Schoch C, Blau I, Schlegelberger B et al. The t (8;9) (p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res 2005;65:2662-2667.
39. Griesinger F, Hennig H, Hillmer F, Podleschny M, Steffens R, Pies A et al. A BCR-JAK2 fusion gene as the result of at (9;22) (p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia. Genes Chromosomes Cancer 2005;44:329-333.
40. Mercher T, Wernig G, Moore S, Levine R, Gu T, Fröhling S et al. JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model. Blood 2006;108:2770-2779.
41. Kearney L, Gonzalez De Castro D, Yeung J, Procter J, Horsley SW, Eguchi-Ishimae M et al. Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood 2009;113:646-648.
42. Mullighan C, Zhang J, Harvey R, Collins-Underwood J, Schulman B, Phillips L et al. JAK mutations in high-risk childhood acute lymphoblastic leukemia. Proc Natl Acad Sci USA 2009;106:9414-9418.