Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms

Haematologica

Volumn 95, Issue 9, 2010, Pages 1473-1480

  Ernst, Thomas ^a,b   Chase, Andrew ^a   Zoi, Katerina ^c   Waghorn, Katherine ^a   Hidalgo Curtis, Claire ^a   Score, Joannah ^a   Jones, Amy ^a   Grand, Francis ^a   Reiter, Andreas ^d   Hochhaus, Andreas ^b   Cross, Nicholas C P ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c BIOMEDICAL RESEARCH FOUNDATION   (Greece)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

AML1; CEBPA; MDS; MPN; Myeloproliferative; RUNX1

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN ALPHA; GENOMIC DNA; NUCLEAR FACTOR; NUCLEOPHOSMIN; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR RUNX1; WT1 PROTEIN;

ALLELE; ARTICLE; CHRONIC MYELOID LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; CHRONIC NEUTROPHILIC LEUKEMIA; COMPARATIVE GENOMIC HYBRIDIZATION; DRUG TARGETING; EOSINOPHILIC LEUKEMIA; FRAMESHIFT MUTATION; GENE DELETION; GENE DOSAGE; GENE FUSION; GENE INSERTION; GENE MUTATION; HEMIZYGOSITY; HUMAN; HYPEREOSINOPHILIC SYNDROME; HYPOTHESIS; LOEFFLER PNEUMONIA; MAJOR CLINICAL STUDY; MIXED MYELODYSPLASTIC MYELOPROLIFERATIVE DISEASE; MUTATIONAL ANALYSIS; MYELOPOIESIS; MYELOPROLIFERATIVE DISORDER; OLIGONUCLEOTIDE PROBE; OVERALL SURVIVAL; PROGNOSIS; UNIVARIATE ANALYSIS;

CCAAT-ENHANCER-BINDING PROTEINS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; GENE DOSAGE; HUMANS; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; MUTATION; MYELODYSPLASTIC SYNDROMES; MYELOPOIESIS; MYELOPROLIFERATIVE DISORDERS; NUCLEAR PROTEINS; PROGNOSIS; TRANSCRIPTION FACTORS; WT1 PROTEINS;

EID: 77956864003     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.021808     Document Type: Article

References (49)

1. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006; 355(23):2452-66.
2. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-951.
3. Orazi A, Germing U. The myelodysplastic/ myeloproliferative neoplasms: myeloproliferative diseases with dysplastic features. Leukemia. 2008;22(7):1308-1319.
4. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al. Widespread ocurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005; 106(6):2162-2168.
5. Hirsch-Ginsberg C, LeMaistre AC, Kantarjian H, Talpaz M, Cork A, Freireich EJ, et al. RAS mutations are rare events in Philadelphia chromosome-negative/bcr gene rearrangement-negative chronic myelogenous leukemia, but are prevalent in chronic myelomonocytic leukemia. Blood. 1990;76(6):1214-1219.
6. Tyner JW, Erickson H, Deininger MW, Willis SG, Eide CA, Levine RL, et al. Highthroughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. Blood.2009;113(8):1749-1755.
7. Dunbar AJ, Gondek LP, O'Keefe CL, Makishima H, Rataul MS, Szpurka H, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68(24):10349-10357.
8. 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(24):6182-6192.
9. Sanada M, Suzuki T, Shih LY, Otsu M, Kato M, Yamazaki S, et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009;460 (7257):904-908.
10. De Keersmaecker K, Cools J. Chronic myeloproliferative disorders: a tyrosine kinase tale. Leukemia. 2006;20(2):200-205.
11. Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003;348(13): 1201-1214.
12. De Keersmaecker K, Graux C, Odero MD, Mentens N, Somers R, Maertens J, et al. Fusion of EML1 to ABL1 in T-cell acute lymphoblastic leukemia with cryptic t(9;14)(q34;q32). Blood. 2005;105(12):4849-4852.
13. Graux C, Cools J, Melotte C, Quentmeier H, Ferrando A, Levine R, et al. Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet. 2004;36(10):1084-1089.
14. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004;36(9):949-951.
15. Christiansen DH, Andersen MK, Pedersen-Bjergaard J. Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation. Blood. 2004;104(5):1474-1481.
16. Fröhling S, Schlenk RF, Stolze I, Bihlmayr J, Benner A, Kreitmeier S, et al. CEBPA mutations in younger adults with acute myeloid leukemia and normal cytogenetics: prog nostic relevance and analysis of cooperating mutations. J Clin Oncol. 2004;22(4):624-633.
17. Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005;352(3):254-266.
18. Virappane P, Gale R, Hills R, Kakkas I, Summers K, Stevens J, et al. Mutation of the Wilms' tumor 1 gene is a poor prognostic factor associated with chemotherapy resistance in normal karyotype acute myeloid leukemia: the United Kingdom Medical Research Council Adult Leukaemia Working Party. J Clin Oncol. 2008;26(33):5429-5435.
19. Wouters BJ, Louwers I, Valk PJ, Löwenberg B, Delwel R. A recurrent in-frame insertion in a CEBPA transactivation domain is a polymorphism rather than a mutation that does not affect gene expression profilingbased clustering of AML. Blood. 2007;109(1):389-390.
20. Biggio V, Renneville A, Nibourel O, Philippe N, Terriou L, Roumier C, et al. Recurrent in-frame insertion in C/EBPalpha TAD2 region is a polymorphism without prognostic value in AML. Leukemia. 2008;22(3):655-657.
21. Blyth K, Cameron ER, Neil JC. The RUNX genes: gain or loss of function in cancer. Nat Rev Cancer. 2005;5(5):376-87.
22. Osato M, Asou N, Abdalla E, Hoshino K, Yamasaki H, Okubo T, et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias. Blood. 1999;93(6):1817-1824.
23. Preudhomme C, Warot-Loze D, Roumier C, Grardel-Duflos N, Garand R, Lai JL, et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in MO acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood. 2000;96(8):2862-2869.
24. Harada H, Harada Y, Niimi H, Kyo T, Kimura A, Inaba T. High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood. 2004;103(6):2316-2324.
25. Harada H, Harada Y, Tanaka H, Kimura A, Inaba T. Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/ acute myeloid leukemia. Blood. 2003;101(2):673-680.
26. Gelsi-Boyer V, Trouplin V, Adélaïde J, Aceto N, Remy V, Pinson S, et al. Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. BMC Cancer. 2008;8:299.
27. Kuo MC, Liang DC, Huang CF, Shih YS, Wu JH, Lin TL, et al. RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation. Leukemia. 2009;23(8):1426-1431.
28. Tahirov TH, Inoue-Bungo T, Morii H, Fujikawa A, Sasaki M, Kimura K, et al. Structural analyses of DNA recognition by the AML1/Runx-1 Runt domain and its allosteric control by CBFbeta. Cell. 2001;104(5):755-767.
29. Tang JL, Hou HA, Chen CY, Liu CY, Chou WC, Tseng MH, et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood. 2009;114(26):5352-5361.
30. Koschmieder S, Halmos B, Levantini E, Tenen DG. Dysregulation of the C/EBPalpha differentiation pathway in human cancer. J Clin Oncol. 2009;27(4):619-628.
31. Leroy H, Roumier C, Huyghe P, Biggio V, Fenaux P, Preudhomme C. CEBPA point mutations in hematological malignancies. Leukemia. 2005;19(3):329-334.
32. Pabst T, Mueller BU, Zhang P, Radomska HS, Narravula S, Schnittger S, et al. Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein- alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet. 2001;27(3):263-270.
33. Marcucci G, Maharry K, Radmacher MD, Mrózek K, Vukosavljevic T, Paschka P, et al. Prognostic significance of, and gene and microRNA expression signatures associated with, CEBPA mutations in cytogenetically normal acute myeloid leukemia with high-risk molecular features: a Cancer and Leukemia Group B study. J Clin Oncol. 2008;26(31):5078-5087.
34. Wouters BJ, Löwenberg B, Erpelinck- Verschueren CA, van Putten WL, Valk PJ, Delwel R. Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome. Blood. 2009;113(13):3088-3091.
35. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004;351(23):2403-2407.
36. Kaeferstein A, Krug U, Tiesmeier J, Aivado M, Faulhaber M, Stadler M, et al. The emergence of a C/EBPalpha mutation in the clonal evolution of MDS towards secondary AML. Leukemia. 2003;17(2):343-349.
37. Shih LY, Huang CF, Lin TL, Wu JH, Wang PN, Dunn P, et al. Heterogeneous patterns of CEBPalpha mutation status in the progression of myelodysplastic syndrome and chronic myelomonocytic leukemia to acute myelogenous leukemia. Clin Cancer Res. 2005;11(5):1821-1826.
38. Schlenk RF, Döhner K, Krauter J, Fröhling S, Corbacioglu A, Bullinger L, et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med. 2008;358(18):1909-1918.
39. Gaidzik VI, Schlenk RF, Moschny S, Becker A, Bullinger L, Corbacioglu A, et al. Prognostic impact of WT1 mutations in cytogenetically normal acute myeloid leukemia: a study of the German-Austrian AML Study Group. Blood. 2009;113(19):4505-4511.
40. Paschka P, Marcucci G, Ruppert AS, Whitman SP, Mrózek K, Maharry K, et al. Wilms' tumor 1 gene mutations independently predict poor outcome in adults with cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol. 2008;26(28):4595-4602.
41. Pabst T, Eyholzer M, Fos J, Mueller BU. Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis. Br J Cancer. 2009;100(8):1343-1346.
42. Hou HA, Lin LI, Chen CY, Tien HF. Reply to 'Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favorable prognosis'. Br J Cancer. 2009;101(4):738-740.
43. Metzgeroth G, Walz C, Erben P, Popp H, Schmitt-Graeff A, Haferlach C, et al. Safety and efficacy of imatinib in chronic eosinophilic leukaemia and hypereosinophilic syndrome: a phase-II study. Br J Haematol. 2008;143(5):707-715.
44. Chase A, Ernst T, Fiebig A, Collins A, Grand F, Erben P, et al. TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals. Haematologica. 2010; 95(1):20-26.
45. Gelsi-Boyer V, Trouplin V, Adélaïde J, Bonansea J, Cervera N, Carbuccia N, et al.Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788-800.
46. 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(22):2289-2301.
47. Tefferi A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Patnaik MM, et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML.Leukemia. 2009;23(7):1343-1345.
48. Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, et al. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood. 2009;114(1):144-147.
49. Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood. 2009; 113(25):6403-6310.