Gene expression profiling with principal component analysis depicts the biological continuum from essential thrombocythemia over polycythemia vera to myelofibrosis

Experimental Hematology

Volumn 40, Issue 9, 2012, Pages

  Skov, Vibe ^a   Thomassen, Mads ^a   Riley, Caroline H ^b   Jensen, Morten K ^b   Bjerrum, Ole Weis ^b   Kruse, Torben A ^a   Hasselbalch, Hans Carl ^b   Larsen, Thomas Stauffer ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; DOWN REGULATION; FEMALE; GENE CLUSTER; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC REGULATION; HUMAN; JANUS KINASE 2 GENE; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; MYELOFIBROSIS; NUCLEOTIDE SEQUENCE; POLYCYTHEMIA VERA; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; THROMBOCYTHEMIA; UNINDEXED SEQUENCE;

EID: 84865037440     PISSN: 0301472X     EISSN: 18732399     Source Type: Journal    
DOI: 10.1016/j.exphem.2012.05.011     Document Type: Article

References (50)

1. DAMESHEK W. Some speculations on the myeloproliferative syndromes. Blood 1951, 6:372-375.
2. Thiele J., Kvasnicka H.M. A critical reappraisal of the WHO classification of the chronic myeloproliferative disorders. Leuk Lymphoma 2006, 47:381-396.
3. Wilkins B.S., Erber W.N., Bareford D., et al. Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood 2008, 111:60-70.
4. Barbui T., Thiele J., Passamonti F., et al. Survival and disease progression in essential thrombocythemia are significantly influenced by accurate morphologic diagnosis: an international study. J Clin Oncol 2011, 29:3179-3184.
5. Vardiman J.W., Thiele J., Arber D.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, 114:937-951.
6. Wernig G., Mercher T., Okabe R., Levine R.L., Lee B.H., Gilliland D.G. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006, 107:4274-4281.
7. Tiedt R., Hao-Shen H., Sobas M.A., et al. Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice. Blood 2008, 111:3931-3940.
8. Vannucchi A.M., Pancrazzi A., Bogani C., Antonioli E., Guglielmelli P. A quantitative assay for JAK2(V617F) mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. Leukemia 2006, 20:1055-1060.
9. Larsen T.S., Pallisgaard N., Moller M.B., Hasselbalch H.C. The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis-impact on disease phenotype. Eur J Haematol 2007, 79:508-515.
10. Campbell P.J., Green A.R. The myeloproliferative disorders. N Engl J Med 2006, 355:2452-2466.
11. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010, 24:1128-1138.
12. Puigdecanet E., Espinet B., Lozano J.J., et al. Gene expression profiling distinguishes JAK2V617F-negative from JAK2V617F-positive patients in essential thrombocythemia. Leukemia 2008, 22:1368-1376.
13. Pellagatti A., Vetrie D., Langford C.F., et al. Gene expression profiling in polycythemia vera using cDNA microarray technology. Cancer Res 2003, 63:3940-3944.
14. 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, 25:165-173.
15. Kralovics R., Teo S.S., Buser A.S., et al. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood 2005, 106:3374-3376.
16. Jones L.C., Tefferi A., Vuong P.T., Desmond J.C., Hofmann W.K., Koeffler H.P. Detection of aberrant gene expression in CD34+ hematopoietic stem cells from patients with agnogenic myeloid metaplasia using oligonucleotide microarrays. Stem Cells 2005, 23:631-637.
17. Berkofsky-Fessler W., Buzzai M., Kim M.K., et al. Transcriptional profiling of polycythemia vera identifies gene expression patterns both dependent and independent from the action of JAK2V617F. Clin Cancer Res 2010, 16:4339-4352.
18. 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.
19. Hasselbalch H.C., Skov V., Larsen T.S., et al. High expression of carcinoembryonic antigen-related cell adhesion molecule (CEACAM) 6 and 8 in primary myelofibrosis. Leuk Res 2011 Oct, 35(10):1330-1334.
20. Skov V., Larsen T.S., Thomassen M., et al. Increased gene expression of histone deacetylases in patients with Philadelphia-negative chronic myeloproliferative neoplasms. Leuk Lymphoma 2012, 53:123-129.
21. Skov V., Larsen T.S., Thomassen M., Riley, et al. Whole-blood transcriptional profiling of interferon-inducible genes identifies highly upregulated IFI27 in primary myelofibrosis. Eur J Haematol 2011, 87:54-60.
22. Gnatenko D.V., Zhu W., Xu X., et al. Class prediction models of thrombocytosis using genetic biomarkers. Blood 2010, 115:7-14.
23. Larsen T.S., Christensen J.H., Hasselbalch H.C., Pallisgaard N. The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of patients with Philadelphia-chromosome negative chronic myeloproliferative disorders. Br J Haematol 2007, 136:745-751.
24. Li C., Wong W.H. Model-based analysis of oligonucleotide arrays: model validation, design issues and standard error application. Genome Biol 2001, 2:1-11.
25. Huang da W., Sherman B.T., Lempicki R.A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 2009, 4:44-57.
26. Huang da W., Sherman B.T., Lempicki R.A. Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res 2009, 37:1-13.
27. Pettit J.E., Lewis S.M., Nicholas A.W. Transitional myeloproliferative disorder. Br J Haematol 1979, 43:167-184.
28. Fernandez-Luna J.L. Apoptosis and polycythemia vera. Curr Opin Hematol 1999, 6:94-99.
29. Silva M., Richard C., Benito A., Sanz C., Olalla I., Fernandez-Luna J.L. Expression of Bcl-x in erythroid precursors from patients with polycythemia vera. N Engl J Med 1998, 338:564-571.
30. Will B., Siddiqi T., Jorda M.A., et al. Apoptosis induced by JAK2 inhibition is mediated by Bim and enhanced by the BH3 mimetic ABT-737 in JAK2 mutant human erythroid cells. Blood 2010, 115:2901-2909.
31. Lu M., Wang J., Li Y., et al. Treatment with the Bcl-xL inhibitor ABT-737 in combination with interferon alpha specifically targets JAK2V617F-positive polycythemia vera hematopoietic progenitor cells. Blood 2010, 116:4284-4287.
32. Kiladjian J.J., Cassinat B., Chevret S., et al. Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood 2008, 112:3065-3072.
33. Quintas-Cardama A., Kantarjian H., Manshouri T., et al. Pegylated interferon alfa-2a yields high rates of hematologic and molecular response in patients with advanced essential thrombocythemia and polycythemia vera. J Clin Oncol 2009, 27:5418-5424.
34. Kiladjian J.J., Mesa R.A., Hoffman R. The renaissance of interferon therapy for the treatment of myeloid malignancies. Blood 2011, 117:4706-4715.
35. Larsen T.S., Moller M.B., de Stricker K., et al. Minimal residual disease and normalization of the bone marrow after long-term treatment with alpha-interferon2b in polycythemia vera. A report on molecular response patterns in seven patients in sustained complete hematological remission. Hematology 2009, 14:331-334.
36. Lu M., Zhang W., Li Y., et al. Interferon-alpha targets JAK2V617F-positive hematopoietic progenitor cells and acts through the p38 MAPK pathway. Exp Hematol 2010, 38:472-480.
37. Tefferi A. Pathogenesis of myelofibrosis with myeloid metaplasia. J Clin Oncol 2005, 23:8520-8530.
38. Desterke C., Bilhou-Nabera C., Guerton B., et al. FLT3-mediated p38-MAPK activation participates in the control of megakaryopoiesis in primary myelofibrosis. Cancer Res 2011, 71:2901-2915.
39. Quintas-Cardama A., Verstovsek S. New JAK2 inhibitors for myeloproliferative neoplasms. Expert Opin Investig Drugs 2011, 20:961-972.
40. Falanga A., Marchetti M., Vignoli A., Balducci D., Barbui T. Leukocyte-platelet interaction in patients with essential thrombocythemia and polycythemia vera. Exp Hematol 2005, 33:523-530.
41. Jensen M.K., de Nully B.P., Lund B.V., Nielsen O.J., Hasselbalch H.C. Increased platelet activation and abnormal membrane glycoprotein content and redistribution in myeloproliferative disorders. Br J Haematol 2000, 110:116-124.
42. Jensen M.K., de Nully B.P., Lund B.V., Nielsen O.J., Hasselbalch H.C. Increased circulating platelet-leukocyte aggregates in myeloproliferative disorders is correlated to previous thrombosis, platelet activation and platelet count. Eur J Haematol 2001, 66:143-151.
43. Harrison P., Cramer E.M. Platelet alpha-granules. Blood Rev 1993, 7:52-62.
44. Falanga A., Marchetti M., Vignoli A., et al. V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules. Exp Hematol 2007, 35:702-711.
45. Barbui T., Carobbio A., Finazzi G., et al. Inflammation and thrombosis in essential thrombocythemia and polycythemia vera: different role of C-reactive protein and pentraxin 3. Haematologica 2011, 96:315-318.
46. Ghigna C., Valacca C., Biamonti G. Alternative splicing and tumor progression. Curr Genomics 2008, 9:556-570.
47. Venables J.P. Aberrant and alternative splicing in cancer. Cancer Res 2004, 64:7647-7654.
48. Srebrow A., Kornblihtt A.R. The connection between splicing and cancer. J Cell Sci 2006, 119:2635-2641.
49. Kristinsson S.Y., Landgren O., Samuelsson J., Bjorkholm M., Goldin L.R. Autoimmunity and the risk of myeloproliferative neoplasms. Haematologica 2010, 95:1216-1220.
50. Plo I., Nakatake M., Malivert L., et al. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood 2008, 112:1402-1412.