Transcriptional profiling of polycythemia vera identifies gene expression patterns both dependent and independent from the action of JAK2V617F

Clinical Cancer Research

Volumn 16, Issue 17, 2010, Pages 4339-4352

  Berkofsky Fessler, Windy ^a   Buzzai, Monica ^b   Kim, Marianne K H ^b   Fruchtman, Steven ^c   Najfeld, Vesna ^d   Min, Dong Joon ^b   Costa, Fabricio F ^b   Bischof, Jared M ^b   Soares, Marcelo B ^b   McConnell, Melanie Jane ^e   Zhang, Weijia ^d   Levine, Ross ^d   Gilliland, D Gary ^f   Calogero, Raffaele ^g   Licht, Jonathan D ^b  

^a HOFFMANN LA ROCHE INC   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c Allos Therapeutics   (United States)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^e MALAGHAN INSTITUTE OF MEDICAL RESEARCH   (New Zealand)

^f MERCK RESEARCH LABORATORIES   (United States)

^g UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CD34 ANTIGEN; JANUS KINASE 2; MESSENGER RNA; PHENYLALANINE; VALINE;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKEMIA CELL LINE; POLYCYTHEMIA VERA; PRIORITY JOURNAL; STEM CELL;

AMINO ACID SUBSTITUTION; ANTIGENS, CD34; BONE MARROW CELLS; CELL DIFFERENTIATION; CELL LINE, TUMOR; CELL PROLIFERATION; CELLS, CULTURED; CLUSTER ANALYSIS; ERYTHROID CELLS; ERYTHROPOIETIN; GENE EXPRESSION PROFILING; HUMANS; JANUS KINASE 2; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYCYTHEMIA VERA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION;

EID: 77956243024     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-10-1092     Document Type: Article

References (62)

1. Levine RL, Gilliland DG. Myeloproliferative disorders. Blood 2008; 112:2190-8.
2. Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006;107:4274-81.
3. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 106:2162-8.
4. Scott LM, Scott MA, Campbell PJ, Green AR. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006; 108:2435-7.
5. Tiedt R, Hao-Shen H, Sobas MA, et al. Ratio of mutant JAK2-617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice. Blood 2008;111:3931-40.
6. Nussenzveig RH, Swierczek SI, Jelinek J, et al. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol 2007;35:32-8.
7. Delhommeau F, Dupont S, James C, et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009;360:2289-301.
8. Tefferi A, Lim K-H, Abdel-Wahab O, et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML. Leukemia 2009;23:1343-5.
9. Tefferi A, Pardanani A, Lim K-H, et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 2009;23:905-11.
10. Schaub FX, Jager R, Looser R, et al. Clonal analysis of deletions on chromosome 20q and JAK2-617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-617F. Blood 2009;113:2022-7.
11. Kilpivaara O, Mukherjee S, Schram AM, et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2 (V617F)-positive myeloproliferative neoplasms. Nat Genet 2009;41: 455-9.
12. Olcaydu D, Harutyunyan A, Jager R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet 2009;41:450-4.
13. Martin P, Papayannopoulou T. HEL cells: a new human erythroleukemia cell line with spontaneous and induced globin expression. Science 1982;216:1233-5.
14. Fiedler W, Henke RP, Ergun S, et al. Derivation of a new hematopoietic cell line with endothelial features from a patient with transformed myeloproliferative syndrome: a case report. Cancer 2000; 88:344-51.
15. Breitling R, Armengaud P, Amtmann A, Herzyk P. Rank products: a simple, yet powerful, new method to detect differentially regulated genes in replicated microarray experiments. FEBS Lett 2004;573: 83-92.
16. Tibshirani R, Hastie T, Narasimhan B, Chu G. Diagnosis of multiple cancer types by shrunken centroids of gene expression. Proc Natl Acad Sci U S A 2002;99:6567-72.
17. Sanges R, Cordero F, Calogero RA. one Channel GUI: a graphical interface to Bioconductor tools, designed for life scientists who are not familiar with R language. Bioinformatics 2007;23:3406-8.
18. Gentleman RC, Carey VJ, Bates DM, et al. Bioconductor: open software development for computational biology and bioinformatics. Genome Biol 2004;5:R80.
19. Bolstad BM, Irizarry RA, Astrand M, Speed TP. A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 2003;19:185-93.
20. von Heydebreck A, Huber W, Gentleman R. Differential expression with the Bioconductor Project: Working paper 7. Bioconductor Project Working Papers 2004. E-pub 2004 June 18.
21. Cope L, Zhong X, Garrett E, Parmigiani G. Merge Maid: R tools for merging and cross-study validation of gene expression data. Stat Appl Genet Mol Biol 2004;3:Article29.
22. Saeed AI, Bhagabati NK, Braisted JC, et al. TM4 microarray software suite. Methods Enzymol 2006;411:134-93.
23. Lacronique V, Boureux A, Valle VD, et al. A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science 1997; 278:1309-12.
24. Wang K, Wang C, Xiao F, Wang H, Wu Z. JAK2/STAT2/STAT3 are required for myogenic differentiation. J Biol Chem 2008;283: 34029-36.
25. Yoshioka S, Okimura Y, Takahashi Y, et al. Up-regulation of mitochondrial transcription factor 1 mRNA levels by GH in VSMC. Life Sci 2004;74:2097-109.
26. Kim SH, Oh J, Choi JY, Jang JY, Kang MW, Lee CE. Identification of human thioredoxin as a novel IFN-γ-induced factor: mechanism of induction and its role in cytokine production. BMC Immunol 2008; 9:64.
27. Parmigiani G, Garrett-Mayer ES, Anbazhagan R, Gabrielson E. A cross-study comparison of gene expression studies for the molecular classification of lung cancer. Clin Cancer Res 2004;10: 2922-7.
28. Gnatenko DV, Cupit LD, Huang EC, Dhundale A, Perrotta PL, Bahou WF. Platelets express steroidogenic 17β-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype. Thromb Haemost 2005;94:412-21.
29. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007;356: 459-68.
30. Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 2006;126:663-76.
31. Kawamata N, Ogawa S, Yamamoto G, et al. Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray. Exp Hematol 2008;36:1471-9.
32. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009;360:2289-301.
33. Jankowska AM, Szpurka H, Tiu RV, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood 2009;113:6403-10.
34. Dunbar A, Gondek L, O'Keefe C, 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: 10349-57.
35. Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009;113:6182-92.
36. Iyer LM, Tahiliani M, Rao A, Aravind L. Prediction of novel families of enzymes involved in oxidative and other complex modifications of bases in nucleic acids. Cell Cycle 2009;8:1698-710.
37. Tahiliani M, Koh KP, Shen Y, et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009;324:930-5.
38. Yount NY, Wang MS, Yuan J, Banaiee N, Ouellette AJ, Selsted ME. Rat neutrophil defensins. Precursor structures and expression during neutrophilic myelopoiesis. J Immunol 1995;155:4476-84.
39. Khine AA, Del Sorbo L, Vaschetto R, et al. Human neutrophil peptides induce interleukin-8 production through the P2Y6 signaling pathway. Blood 2006;107:2936-42.
40. Hermouet S, Godard A, Pineau D, et al. Abnormal production of interleukin (IL)-11 and IL-8 in polycythaemia vera. Cytokine 2002; 20:178-83.
41. Corre-Buscail I, Pineau D, Boissinot M, Hermouet S. Erythropoietinin- dependent erythroid colony formation by bone marrow progenitors exposed to interleukin-11 and interleukin-8. Exp Hematol 2005;33: 1299-308.
42. Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009;41:829-32.
43. Soderberg SS, Karlsson G, Karlsson S. Complex and context dependent regulation of hematopoiesis by TGF-β superfamily signaling. Ann N Y Acad Sci 2009;1176:55-69.
44. Chen G, Zeng W, Miyazato A, et al. Distinctive gene expression profiles of CD34 cells from patients with myelodysplastic syndrome characterized by specific chromosomal abnormalities. Blood 2004; 104:4210-8.
45. Alberta JA, Springett GM, Rayburn H, et al. Role of the WT1 tumor suppressor in murine hematopoiesis. Blood 2003;101:2570-4.
46. Loeb DM, Summers JL, Burwell EA, Korz D, Friedman AD, Sukumar S. An isoform of the Wilms' tumor suppressor gene potentiates granulocytic differentiation. Leukemia 2003;17:965-71.
47. Wieser R. The oncogene and developmental regulator EVI1: expression, biochemical properties, and biological functions. Gene 2007;396:346-57.
48. Narla G, Kremer-Tal S, Matsumoto N, et al. In vivo regulation of p21 by the Kruppel-like factor 6 tumor-suppressor gene in mouse liver and human hepatocellular carcinoma. Oncogene 2007;26:4428-34.
49. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol 2002;30:229-36.
50. Fernandez de Mattos S, Essafi A, Soeiro I, et al. FoxO3a and BCR-ABL regulate cyclin D2 transcription through a STAT5/BCL6-dependent mechanism. Mol Cell Biol 2004;24:10058-71.
51. Hurtz C, Cihangir D, Leandro Cerchietti L, et al. BCL6 is required for leukemia-initiation and self-renewal signaling in chronic myeloid leukemia. Blood 2009;114:Abstract 2167.
52. Wernig G, Kharas MG, Okabe R, et al. Efficacy of TG101348, a selective JAK2 inhibitor, in treatment of a murine model of JAK2V617Finduced polycythemia vera. Cancer Cell 2008;13:311-20.
53. Hexner EO, Serdikoff C, Jan M, et al. Lestaurtinib (CEP701) is a JAK2 inhibitor that suppresses JAK2/STAT5 signaling and the proliferation of primary erythroid cells from patients with myeloproliferative disorders. Blood 2008;111:5663-71.
54. Fridman J, Nussenzveig R, Liu P, et al. Discovery and preclinical characterization of INCB018424, a selective JAK2 inhibitor for the treatment of myeloproliferative disorders. ASH Annual Meeting Abstracts 2007;110:3538.
55. Pellagatti A, Vetrie D, Langford CF, et al. Gene expression profiling in polycythemia vera using cDNA microarray technology. Cancer Res 2003;63:3940-4.
56. Goerttler PS, Kreutz C, Donauer J, et al. Gene expression profiling in polycythaemia vera: overexpression of transcription factor NF-E2. Br J Haematol 2005;129:138-50.
57. Jones LC, Tefferi A, Vuong PT, Desmond JC, Hofmann WK, Koeffler HP. Detection of aberrant gene expression in CD34+ hematopoietic stem cells from patients with agnogenic myeloid metaplasia using oligonucleotide microarrays. Stem Cells 2005; 23:631-7.
58. Kralovics R, Teo SS, Buser AS, et al. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood 2005;106:3374-6.
59. Schwemmers S, Will B, Waller CF, et al. JAK2V617F-negative ET patients do not display constitutively active JAK/STAT signaling. Exp Hematol 2007;35:1695-703.
60. Puigdecanet E, Espinet B, Lozano JJ, et al. Gene expression profiling distinguishes JAK2V617F-negative from JAK2V617Fpositive patients in essential thrombocythemia. Leukemia 2008; 22:1368-76.
61. Catani L, Zini R, Sollazzo D, et al. Molecular profile of CD34+ stem/ progenitor cells according to JAK2V617F mutation status in essential thrombocythemia. Leukemia 2009;23:997-1000.
62. Guglielmelli P, Zini R, Bogani C, et al. Molecular profiling of CD34+ cells in idiopathic myelofibrosis identifies a set of disease-associated genes and reveals the clinical significance of Wilms' tumor gene 1 (WT1). Stem Cells 2007;25:165-73.