Janus Kinase Deregulation in Leukemia and Lymphoma

Immunity

Volumn 36, Issue 4, 2012, Pages 529-541

  Chen, Edwin ^a   Staudt, Louis M ^b   Green, Anthony R ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NATIONAL CANCER INSTITUTE   (United States)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 1; JANUS KINASE 2; JANUS KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; PHOSPHATIDYLETHANOLAMINE BINDING PROTEIN;

ACUTE LEUKEMIA; CHROMATIN; DOWN REGULATION; DOWNSTREAM PROCESSING; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; LYMPHOMA; MYELOID LEUKEMIA; NONHUMAN; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; CHROMATIN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JANUS KINASES; LEUKEMIA; LYMPHOMA; MICE; MUTATION; SIGNAL TRANSDUCTION;

EID: 84859957094     PISSN: 10747613     EISSN: 10974180     Source Type: Journal    
DOI: 10.1016/j.immuni.2012.03.017     Document Type: Review

References (119)

1. Aboudola S., Murugesan G., Szpurka H., Ramsingh G., Zhao X., Prescott N., Tubbs R.R., Maciejewski J.P., Hsi E.D. Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disorders correlates with JAK2 V617F mutation and provides evidence of in vivo JAK2 activation. Am. J. Surg. Pathol. 2007, 31:233-239.
2. Asnafi V., Le Noir S., Lhermitte L., Gardin C., Legrand F., Vallantin X., Malfuson J.V., Ifrah N., Dombret H., Macintyre E. JAK1 mutations are not frequent events in adult T-ALL: a GRAALL study. Br. J. Haematol. 2010, 148:178-179.
3. Baxter E.J., Scott L.M., Campbell P.J., East C., Fourouclas N., Swanton S., Vassiliou G.S., Bench A.J., Boyd E.M., Curtin N., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365:1054-1061. Cancer Genome Project.
4. Beer P.A., Jones A.V., Bench A.J., Goday-Fernandez A., Boyd E.M., Vaghela K.J., Erber W.N., Odeh B., Wright C., McMullin M.F., et al. Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones. Br. J. Haematol. 2009, 144:904-908.
5. Beer P.A., Delhommeau F., LeCouédic J.P., Dawson M.A., Chen E., Bareford D., Kusec R., McMullin M.F., Harrison C.N., Vannucchi A.M., et al. Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood 2010, 115:2891-2900.
6. Bercovich D., Ganmore I., Scott L.M., Wainreb G., Birger Y., Elimelech A., Shochat C., Cazzaniga G., Biondi A., Basso G., et al. Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet 2008, 372:1484-1492.
7. Campbell P.J., Baxter E.J., Beer P.A., Scott L.M., Bench A.J., Huntly B.J., Erber W.N., Kusec R., Larsen T.S., Giraudier S., et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood 2006, 108:3548-3555.
8. Chen G.L., Prchal J.T. X-linked clonality testing: interpretation and limitations. Blood 2007, 110:1411-1419.
9. Chen E., Beer P.A., Godfrey A.L., Ortmann C.A., Li J., Costa-Pereira A.P., Ingle C.E., Dermitzakis E.T., Campbell P.J., Green A.R. Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. Cancer Cell 2010, 18:524-535.
10. da Costa Reis Monte-Mór B., Plo I., da Cunha A.F., Costa G.G., de Albuquerque D.M., Jedidi A., Villeval J.L., Badaoui S., Lorand-Metze I., Pagnano K.B., et al. Constitutive JunB expression, associated with the JAK2 V617F mutation, stimulates proliferation of the erythroid lineage. Leukemia 2009, 23:144-152.
11. Dai C., Chung I.J., Krantz S.B. Increased erythropoiesis in polycythemia vera is associated with increased erythroid progenitor proliferation and increased phosphorylation of Akt/PKB. Exp. Hematol. 2005, 33:152-158.
12. Dawson M.A., Bannister A.J., Göttgens B., Foster S.D., Bartke T., Green A.R., Kouzarides T. JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin. Nature 2009, 461:819-822.
13. Delhommeau F., Dupont S., Della Valle V., James C., Trannoy S., Massé A., Kosmider O., Le Couedic J.P., Robert F., Alberdi A., et al. Mutation in TET2 in myeloid cancers. N. Engl. J. Med. 2009, 360:2289-2301.
14. Ding B.B., Yu J.J., Yu R.Y., Mendez L.M., Shaknovich R., Zhang Y., Cattoretti G., Ye B.H. Constitutively activated STAT3 promotes cell proliferation and survival in the activated B-cell subtype of diffuse large B-cell lymphomas. Blood 2008, 111:1515-1523.
15. Dumon S., Santos S.C., Debierre-Grockiego F., Gouilleux-Gruart V., Cocault L., Boucheron C., Mollat P., Gisselbrecht S., Gouilleux F. IL-3 dependent regulation of Bcl-xL gene expression by STAT5 in a bone marrow derived cell line. Oncogene 1999, 18:4191-4199.
16. Dusa A., Mouton C., Pecquet C., Herman M., Constantinescu S.N. JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors. PLoS ONE 2010, 5:e11157.
17. Elliott N.E., Cleveland S.M., Grann V., Janik J., Waldmann T.A., Davé U.P. FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma. Blood 2011, 118:3911-3921.
18. Flex E., Petrangeli V., Stella L., Chiaretti S., Hornakova T., Knoops L., Ariola C., Fodale V., Clappier E., Paoloni F., et al. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J. Exp. Med. 2008, 205:751-758.
19. Funakoshi-Tago M., Tago K., Sumi K., Abe M., Aizu-Yokota E., Oshio T., Sonoda Y., Kasahara T. The acute lymphoblastic leukemia-associated JAK2 L611S mutant induces tumorigenesis in nude mice. J. Biol. Chem. 2009, 284:12680-12690.
20. Funakoshi-Tago M., Tago K., Abe M., Sonoda Y., Kasahara T. STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. J. Biol. Chem. 2010, 285:5296-5307.
21. Garçon L., Rivat C., James C., Lacout C., Camara-Clayette V., Ugo V., Lecluse Y., Bennaceur-Griscelli A., Vainchenker W. Constitutive activation of STAT5 and Bcl-xL overexpression can induce endogenous erythroid colony formation in human primary cells. Blood 2006, 108:1551-1554.
22. Giordanetto F., Kroemer R.T. Prediction of the structure of human Janus kinase 2 (JAK2) comprising JAK homology domains 1 through 7. Protein Eng. 2002, 15:727-737.
23. Gozgit J.M., Bebernitz G., Patil P., Ye M., Parmentier J., Wu J., Su N., Wang T., Ioannidis S., Davies A., et al. Effects of the JAK2 inhibitor, AZ960, on Pim/BAD/BCL-xL survival signaling in the human JAK2 V617F cell line SET-2. J. Biol. Chem. 2008, 283:32334-32343.
24. Griesinger F., Hennig H., Hillmer F., Podleschny M., Steffens R., Pies A., Wörmann B., Haase D., Bohlander S.K. A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia. Genes Chromosomes Cancer 2005, 44:329-333.
25. Haeno H., Levine R.L., Gilliland D.G., Michor F. A progenitor cell origin of myeloid malignancies. Proc. Natl. Acad. Sci. USA 2009, 106:16616-16621.
26. Harrison C.N., Bareford D., Butt N., Campbell P., Conneally E., Drummond M., Erber W., Everington T., Green A.R., Hall G.W., et al. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br. J. Haematol. 2010, 149:352-375. British Committee for Standards in Haematology.
27. Harvey R.C., Mullighan C.G., Chen I.M., Wharton W., Mikhail F.M., Carroll A.J., Kang H., Liu W., Dobbin K.K., Smith M.A., et al. Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia. Blood 2010, 115:5312-5321.
28. Harvey R.C., Mullighan C.G., Wang X., Dobbin K.K., Davidson G.S., Bedrick E.J., Chen I.M., Atlas S.R., Kang H., Ar K., et al. Identification of novel cluster groups in pediatric high-risk B-precursor acute lymphoblastic leukemia with gene expression profiling: correlation with genome-wide DNA copy number alterations, clinical characteristics, and outcome. Blood 2010, 116:4874-4884.
29. Hornakova T., Staerk J., Royer Y., Flex E., Tartaglia M., Constantinescu S.N., Knoops L., Renauld J.C. Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. J. Biol. Chem. 2009, 284:6773-6781.
30. Huntly B.J., Shigematsu H., Deguchi K., Lee B.H., Mizuno S., Duclos N., Rowan R., Amaral S., Curley D., Williams I.R., et al. MOZ-TIF2, but not BCR-ABL, confers properties of leukemic stem cells to committed murine hematopoietic progenitors. Cancer Cell 2004, 6:587-596.
31. Ishii T., Zhao Y., Sozer S., Shi J., Zhang W., Hoffman R., Xu M. Behavior of CD34+ cells isolated from patients with polycythemia vera in NOD/SCID mice. Exp. Hematol. 2007, 35:1633-1640.
32. James C., Ugo V., Le Couédic J.P., Staerk J., Delhommeau F., Lacout C., Garçon L., Raslova H., Berger R., Bennaceur-Griscelli A., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434:1144-1148.
33. James C., Mazurier F., Dupont S., Chaligne R., Lamrissi-Garcia I., Tulliez M., Lippert E., Mahon F.X., Pasquet J.M., Etienne G., et al. The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity. Blood 2008, 112:2429-2438.
34. Jamieson C.H., Gotlib J., Durocher J.A., Chao M.P., Mariappan M.R., Lay M., Jones C., Zehnder J.L., Lilleberg S.L., Weissman I.L. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc. Natl. Acad. Sci. USA 2006, 103:6224-6229.
35. Jelinek J., Oki Y., Gharibyan V., Bueso-Ramos C., Prchal J.T., Verstovsek S., Beran M., Estey E., Kantarjian H.M., Issa J.P. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 2005, 106:3370-3373.
36. Jones A.V., Kreil S., Zoi K., Waghorn K., Curtis C., Zhang L., Score J., Seear R., Chase A.J., Grand F.H., et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005, 106:2162-2168.
37. Jones A.V., Chase A., Silver R.T., Oscier D., Zoi K., Wang Y.L., Cario H., Pahl H.L., Collins A., Reiter A., et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat. Genet. 2009, 41:446-449.
38. Joos S., Küpper M., Ohl S., von Bonin F., Mechtersheimer G., Bentz M., Marynen P., Möller P., Pfreundschuh M., Trümper L., Lichter P. Genomic imbalances including amplification of the tyrosine kinase gene JAK2 in CD30+ Hodgkin cells. Cancer Res. 2000, 60:549-552.
39. Ju W., Zhang M., Jiang J.K., Thomas C.J., Oh U., Bryant B.R., Chen J., Sato N., Tagaya Y., Morris J.C., et al. CP-690,550, a therapeutic agent, inhibits cytokine-mediated Jak3 activation and proliferation of T cells from patients with ATL and HAM/TSP. Blood 2011, 117:1938-1946.
40. Kamishimoto J., Tago K., Kasahara T., Funakoshi-Tago M. Akt activation through the phosphorylation of erythropoietin receptor at tyrosine 479 is required for myeloproliferative disorder-associated JAK2 V617F mutant-induced cellular transformation. Cell. Signal. 2011, 23:849-856.
41. Kearney L., Gonzalez De Castro D., Yeung J., Procter J., Horsley S.W., Eguchi-Ishimae M., Bateman C.M., Anderson K., Chaplin T., Young B.D., et al. Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood 2009, 113:646-648.
42. Kelly J.A., Spolski R., Kovanen P.E., Suzuki T., Bollenbacher J., Pise-Masison C.A., Radonovich M.F., Lee S., Jenkins N.A., Copeland N.G., et al. Stat5 synergizes with T cell receptor/antigen stimulation in the development of lymphoblastic lymphoma. J. Exp. Med. 2003, 198:79-89.
43. Khwaja A. The role of Janus kinases in haemopoiesis and haematological malignancy. Br. J. Haematol. 2006, 134:366-384.
44. Kilpivaara O., Mukherjee S., Schram A.M., Wadleigh M., Mullally A., Ebert B.L., Bass A., Marubayashi S., Heguy A., Garcia-Manero G., et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat. Genet. 2009, 41:455-459.
45. Kralovics R., Passamonti F., Buser A.S., Teo S.S., Tiedt R., Passweg J.R., Tichelli A., Cazzola M., Skoda R.C. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med. 2005, 352:1779-1790.
46. Kralovics R., Teo S.S., Li S., Theocharides A., Buser A.S., Tichelli A., Skoda R.C. 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.
47. Kratz C.P., Böll S., Kontny U., Schrappe M., Niemeyer C.M., Stanulla M. Mutational screen reveals a novel JAK2 mutation, L611S, in a child with acute lymphoblastic leukemia. Leukemia 2006, 20:381-383.
48. Lacronique V., Boureux A., Valle V.D., Poirel H., Quang C.T., Mauchauffé M., Berthou C., Lessard M., Berger R., Ghysdael J., Bernard O.A. A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science 1997, 278:1309-1312.
49. Lacronique V., Boureux A., Monni R., Dumon S., Mauchauffé M., Mayeux P., Gouilleux F., Berger R., Gisselbrecht S., Ghysdael J., Bernard O.A. Transforming properties of chimeric TEL-JAK proteins in Ba/F3 cells. Blood 2000, 95:2076-2083.
50. Lam L.T., Davis R.E., Pierce J., Hepperle M., Xu Y., Hottelet M., Nong Y., Wen D., Adams J., Dang L., Staudt L.M. Small molecule inhibitors of IkappaB kinase are selectively toxic for subgroups of diffuse large B-cell lymphoma defined by gene expression profiling. Clin. Cancer Res. 2005, 11:28-40.
51. Lam L.T., Wright G., Davis R.E., Lenz G., Farinha P., Dang L., Chan J.W., Rosenwald A., Gascoyne R.D., Staudt L.M. Cooperative signaling through the signal transducer and activator of transcription 3 and nuclear factor-kappaB pathways in subtypes of diffuse large B-cell lymphoma. Blood 2008, 111:3701-3713.
52. Landgren O., Goldin L.R., Kristinsson S.Y., Helgadottir E.A., Samuelsson J., Björkholm M. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. Blood 2008, 112:2199-2204.
53. LaPorte S.L., Juo Z.S., Vaclavikova J., Colf L.A., Qi X., Heller N.M., Keegan A.D., Garcia K.C. Molecular and structural basis of cytokine receptor pleiotropy in the interleukin-4/13 system. Cell 2008, 132:259-272.
54. Lelièvre H., Cervera N., Finetti P., Delhommeau F., Vainchenker W., Bertucci F., Birnbaum D. Oncogenic kinases of myeloproliferative disorders induce both protein synthesis and G1 activators. Leukemia 2006, 20:1885-1888.
55. Lenz G., Wright G.W., Emre N.C., Kohlhammer H., Dave S.S., Davis R.E., Carty S., Lam L.T., Shaffer A.L., Xiao W., et al. Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. Proc. Natl. Acad. Sci. USA 2008, 105:13520-13525.
56. Levine R.L., Loriaux M., Huntly B.J., Loh M.L., Beran M., Stoffregen E., Berger R., Clark J.J., Willis S.G., Nguyen K.T., et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 2005, 106:3377-3379.
57. Levine R.L., Wadleigh M., Cools J., Ebert B.L., Wernig G., Huntly B.J., Boggon T.J., Wlodarska I., Clark J.J., Moore S., 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.
58. Li G., Miskimen K.L., Wang Z., Xie X.Y., Tse W., Gouilleux F., Moriggl R., Bunting K.D. Effective targeting of STAT5-mediated survival in myeloproliferative neoplasms using ABT-737 combined with rapamycin. Leukemia 2010, 24:1397-1405.
59. Li J., Spensberger D., Ahn J.S., Anand S., Beer P.A., Ghevaert C., Chen E., Forrai A., Scott L.M., Ferreira R., et al. JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. Blood 2010, 116:1528-1538.
60. Li J., Kent D.G., Chen E., Green A.R. Mouse models of myeloproliferative neoplasms: JAK of all grades. Dis. Model. Mech. 2011, 4:311-317.
61. Loh M.L. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. Br. J. Haematol. 2011, 152:677-687.
62. Loh Y.H., Zhang W., Chen X., George J., Ng H.H. Jmjd1a and Jmjd2c histone H3 Lys 9 demethylases regulate self-renewal in embryonic stem cells. Genes Dev. 2007, 21:2545-2557.
63. Lu X., Levine R., Tong W., Wernig G., Pikman Y., Zarnegar S., Gilliland D.G., Lodish H. Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation. Proc. Natl. Acad. Sci. USA 2005, 102:18962-18967.
64. Lucet I.S., Fantino E., Styles M., Bamert R., Patel O., Broughton S.E., Walter M., Burns C.J., Treutlein H., Wilks A.F., Rossjohn J. The structural basis of Janus kinase 2 inhibition by a potent and specific pan-Janus kinase inhibitor. Blood 2006, 107:176-183.
65. Ma W., Kantarjian H., Zhang X., Yeh C.H., Zhang Z.J., Verstovsek S., Albitar M. Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias. J. Mol. Diagn. 2009, 11:49-53.
66. Malinge S., Ben-Abdelali R., Settegrana C., Radford-Weiss I., Debre M., Beldjord K., Macintyre E.A., Villeval J.L., Vainchenker W., Berger R., et al. Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia. Blood 2007, 109:2202-2204.
67. Malinge S., Ragu C., Della-Valle V., Pisani D., Constantinescu S.N., Perez C., Villeval J.L., Reinhardt D., Landman-Parker J., Michaux L., et al. Activating mutations in human acute megakaryoblastic leukemia. Blood 2008, 112:4220-4226.
68. Mark H.F., Sotomayor E.A., Nelson M., Chaves F., Sanger W.G., Kaleem Z., Caughron S.K. Chronic idiopathic myelofibrosis (CIMF) resulting from a unique 3;9 translocation disrupting the janus kinase 2 (JAK2) gene. Exp. Mol. Pathol. 2006, 81:217-223.
69. Matsumura I., Kitamura T., Wakao H., Tanaka H., Hashimoto K., Albanese C., Downward J., Pestell R.G., Kanakura Y. Transcriptional regulation of the cyclin D1 promoter by STAT5: its involvement in cytokine-dependent growth of hematopoietic cells. EMBO J. 1999, 18:1367-1377.
70. McMullin M.F., Reilly J.T., Campbell P., Bareford D., Green A.R., Harrison C.N., Conneally E., Ryan K. Amendment to the guideline for diagnosis and investigation of polycythaemia/erythrocytosis. Br. J. Haematol. 2007, 138:821-822. National Cancer Research Institute, Myeloproliferative Disorder Subgroup, British Committee for Standards in HaematologyBritish Committee for Standards in Haematology.
71. Mesa R.A., Tefferi A., Lasho T.S., Loegering D., McClure R.F., Powell H.L., Dai N.T., Steensma D.P., Kaufmann S.H. Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. Leukemia 2006, 20:1800-1808.
72. Mullally A., Lane S.W., Ball B., Megerdichian C., Okabe R., Al-Shahrour F., Paktinat M., Haydu J.E., Housman E., Lord A.M., et al. Physiological Jak2V617F expression causes a lethal myeloproliferative neoplasm with differential effects on hematopoietic stem and progenitor cells. Cancer Cell 2010, 17:584-596.
73. Mullighan C.G., Collins-Underwood J.R., Phillips L.A., Loudin M.G., Liu W., Zhang J., Ma J., Coustan-Smith E., Harvey R.C., Willman C.L., et al. Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat. Genet. 2009, 41:1243-1246.
74. Mullighan C.G., Zhang J., Harvey R.C., Collins-Underwood J.R., Schulman B.A., Phillips L.A., Tasian S.K., Loh M.L., Su X., Liu W., et al. JAK mutations in high-risk childhood acute lymphoblastic leukemia. Proc. Natl. Acad. Sci. USA 2009, 106:9414-9418.
75. Nebral K., Denk D., Attarbaschi A., König M., Mann G., Haas O.A., Strehl S. Incidence and diversity of PAX5 fusion genes in childhood acute lymphoblastic leukemia. Leukemia 2009, 23:134-143.
76. Ngo V.N., Young R.M., Schmitz R., Jhavar S., Xiao W., Lim K.H., Kohlhammer H., Xu W., Yang Y., Zhao H., et al. Oncogenically active MYD88 mutations in human lymphoma. Nature 2011, 470:115-119.
77. Nussenzveig R.H., Swierczek S.I., Jelinek J., Gaikwad A., Liu E., Verstovsek S., Prchal J.F., Prchal J.T. Polycythemia vera is not initiated by JAK2V617F mutation. Exp. Hematol. 2007, 35:32-38.
78. Olcaydu D., Harutyunyan A., Jäger R., Berg T., Gisslinger B., Pabinger I., Gisslinger H., Kralovics R. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat. Genet. 2009, 41:450-454.
79. Parikh C., Subrahmanyam R., Ren R. Oncogenic NRAS rapidly and efficiently induces CMML- and AML-like diseases in mice. Blood 2006, 108:2349-2357.
80. Pérez B., Kosmider O., Cassinat B., Renneville A., Lachenaud J., Kaltenbach S., Bertrand Y., Baruchel A., Chomienne C., Fontenay M., et al. Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia. Br. J. Haematol. 2010, 151:460-468.
81. Plo I., Nakatake M., Malivert L., de Villartay J.P., Giraudier S., Villeval J.L., Wiesmuller L., Vainchenker W. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood 2008, 112:1402-1412.
82. Poitras J.L., Dal Cin P., Aster J.C., Deangelo D.J., Morton C.C. Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia. Genes Chromosomes Cancer 2008, 47:884-889.
83. Puigdecanet E., Espinet B., Lozano J.J., Sumoy L., Bellosillo B., Arenillas L., Alvarez-Larrán A., Solé F., Serrano S., Besses C., Florensa L. Gene expression profiling distinguishes JAK2V617F-negative from JAK2V617F-positive patients in essential thrombocythemia. Leukemia 2008, 22:1368-1376.
84. Reiter A., Walz C., Watmore A., Schoch C., Blau I., Schlegelberger B., Berger U., Telford N., Aruliah S., Yin J.A., 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.
85. Rosenwald A., Wright G., Leroy K., Yu X., Gaulard P., Gascoyne R.D., Chan W.C., Zhao T., Haioun C., Greiner T.C., et al. Molecular diagnosis of primary mediastinal B cell lymphoma identifies a clinically favorable subgroup of diffuse large B cell lymphoma related to Hodgkin lymphoma. J. Exp. Med. 2003, 198:851-862.
86. Rui L., Emre N.C., Kruhlak M.J., Chung H.J., Steidl C., Slack G., Wright G.W., Lenz G., Ngo V.N., Shaffer A.L., et al. Cooperative epigenetic modulation by cancer amplicon genes. Cancer Cell 2010, 18:590-605.
87. Russell L.J., Capasso M., Vater I., Akasaka T., Bernard O.A., Calasanz M.J., Chandrasekaran T., Chapiro E., Gesk S., Griffiths M., et al. Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia. Blood 2009, 114:2688-2698.
88. Santos F.P., Kantarjian H.M., Jain N., Manshouri T., Thomas D.A., Garcia-Manero G., Kennedy D., Estrov Z., Cortes J., Verstovsek S. Phase 2 study of CEP-701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. Blood 2010, 115:1131-1136.
89. Sato T., Toki T., Kanezaki R., Xu G., Terui K., Kanegane H., Miura M., Adachi S., Migita M., Morinaga S., et al. Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br. J. Haematol. 2008, 141:681-688.
90. Savage K.J., Monti S., Kutok J.L., Cattoretti G., Neuberg D., De Leval L., Kurtin P., Dal Cin P., Ladd C., Feuerhake F., et al. The molecular signature of mediastinal large B-cell lymphoma differs from that of other diffuse large B-cell lymphomas and shares features with classical Hodgkin lymphoma. Blood 2003, 102:3871-3879.
91. Schaub F.X., Jäger R., Looser R., Hao-Shen H., Hermouet S., Girodon F., Tichelli A., Gisslinger H., Kralovics R., Skoda R.C. Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F. Blood 2009, 113:2022-2027.
92. Schwaller J., Parganas E., Wang D., Cain D., Aster J.C., Williams I.R., Lee C.K., Gerthner R., Kitamura T., Frantsve J., et al. Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2. Mol. Cell 2000, 6:693-704.
93. Scott L.M., Campbell P.J., Baxter E.J., Todd T., Stephens P., Edkins S., Wooster R., Stratton M.R., Futreal P.A., Green A.R. The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood 2005, 106:2920-2921.
94. Scott L.M., Scott M.A., Campbell P.J., Green A.R. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006, 108:2435-2437.
95. Scott L.M., Tong W., Levine R.L., Scott M.A., Beer P.A., Stratton M.R., Futreal P.A., Erber W.N., McMullin M.F., Harrison C.N., et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N. Engl. J. Med. 2007, 356:459-468.
96. Scuto A., Kujawski M., Kowolik C., Krymskaya L., Wang L., Weiss L.M., Digiusto D., Yu H., Forman S., Jove R. STAT3 inhibition is a therapeutic strategy for ABC-like diffuse large B-cell lymphoma. Cancer Res. 2011, 71:3182-3188.
97. Shi S., Calhoun H.C., Xia F., Li J., Le L., Li W.X. JAK signaling globally counteracts heterochromatic gene silencing. Nat. Genet. 2006, 38:1071-1076.
98. Shochat C., Tal N., Bandapalli O.R., Palmi C., Ganmore I., te Kronnie G., Cario G., Cazzaniga G., Kulozik A.E., Stanulla M., et al. Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias. J. Exp. Med. 2011, 208:901-908.
99. Slupianek A., Hoser G., Majsterek I., Bronisz A., Malecki M., Blasiak J., Fishel R., Skorski T. Fusion tyrosine kinases induce drug resistance by stimulation of homology-dependent recombination repair, prolongation of G(2)/M phase, and protection from apoptosis. Mol. Cell. Biol. 2002, 22:4189-4201.
100. Staerk J., Kallin A., Demoulin J.B., Vainchenker W., Constantinescu S.N. JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. J. Biol. Chem. 2005, 280:41893-41899.
101. Steensma D.P., Dewald G.W., Lasho T.L., Powell H.L., McClure R.F., Levine R.L., Gilliland D.G., Tefferi A. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both " atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 2005, 106:1207-1209.
102. Tefferi A., Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008, 22:14-22.
103. Teofili L., Martini M., Cenci T., Petrucci G., Torti L., Storti S., Guidi F., Leone G., Larocca L.M. Different STAT-3 and STAT-5 phosphorylation discriminates among Ph-negative chronic myeloproliferative diseases and is independent of the V617F JAK-2 mutation. Blood 2007, 110:354-359.
104. Theocharides A., Boissinot M., Girodon F., Garand R., Teo S.S., Lippert E., Talmant P., Tichelli A., Hermouet S., Skoda R.C. Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood 2007, 110:375-379.
105. Ugo V., Marzac C., Teyssandier I., Larbret F., Lécluse Y., Debili N., Vainchenker W., Casadevall N. Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera. Exp. Hematol. 2004, 32:179-187.
106. Ungureanu D., Wu J., Pekkala T., Niranjan Y., Young C., Jensen O.N., Xu C.F., Neubert T.A., Skoda R.C., Hubbard S.R., Silvennoinen O. The pseudokinase domain of JAK2 is a dual-specificity protein kinase that negatively regulates cytokine signaling. Nat. Struct. Mol. Biol. 2011, 18:971-976.
107. Van Pelt K., Nollet F., Selleslag D., Knoops L., Constantinescu S.N., Criel A., Billiet J. The JAK2V617F mutation can occur in a hematopoietic stem cell that exhibits no proliferative advantage: a case of human allogeneic transplantation. Blood 2008, 112:921-922.
108. Vannucchi A.M., Antonioli E., Guglielmelli P., Pardanani A., Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia 2008, 22:1299-1307.
109. Verstovsek S., Kantarjian H., Mesa R.A., Pardanani A.D., Cortes-Franco J., Thomas D.A., Estrov Z., Fridman J.S., Bradley E.C., Erickson-Viitanen S., et al. Safety and efficacy of INCB018424, a JAK1 and JAK2 inhibitor, in myelofibrosis. N. Engl. J. Med. 2010, 363:1117-1127.
110. Walters D.K., Mercher T., Gu T.L., O'Hare T., Tyner J.W., Loriaux M., Goss V.L., Lee K.A., Eide C.A., Wong M.J., et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell 2006, 10:65-75.
111. Walz C., Ahmed W., Lazarides K., Betancur M., Patel N., Hennighausen L., Zaleskas V.M., Van Etten R.A. Essential role for Stat5a/b in myeloproliferative neoplasms induced by BCR-ABL1 and Jak2V617F in mice. Blood 2012, 10.
112. Whetstine J.R., Nottke A., Lan F., Huarte M., Smolikov S., Chen Z., Spooner E., Li E., Zhang G., Colaiacovo M., Shi Y. Reversal of histone lysine trimethylation by the JMJD2 family of histone demethylases. Cell 2006, 125:467-481.
113. Xiang Z., Zhao Y., Mitaksov V., Fremont D.H., Kasai Y., Molitoris A., Ries R.E., Miner T.L., McLellan M.D., DiPersio J.F., et al. Identification of somatic JAK1 mutations in patients with acute myeloid leukemia. Blood 2008, 111:4809-4812.
114. Yan D., Hutchison R.E., Mohi G. Critical requirement for Stat5 in a mouse model of polycythemia vera. Blood 2011, 5.
115. Yan Y., Huang Y., Watkins A.J., Kocialkowski S., Zeng N., Hamoudi R.A., Isaacson P.G., de Leval L., Wotherspoon A., Du M.Q. BCR and TLR signalling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas. Haematologica 2011, in press. Published online November 18, 2011. 10.3324/haematol.2011.054080.
116. Yang J., Liao X., Agarwal M.K., Barnes L., Auron P.E., Stark G.R. Unphosphorylated STAT3 accumulates in response to IL-6 and activates transcription by binding to NFkappaB. Genes Dev. 2007, 21:1396-1408.
117. Yoda A., Yoda Y., Chiaretti S., Bar-Natan M., Mani K., Rodig S.J., West N., Xiao Y., Brown J.R., Mitsiades C., et al. Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia. Proc. Natl. Acad. Sci. USA 2010, 107:252-257.
118. Zenatti P.P., Ribeiro D., Li W., Zuurbier L., Silva M.C., Paganin M., Tritapoe J., Hixon J.A., Silveira A.B., Cardoso B.A., et al. Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia. Nat. Genet. 2011, 43:932-939.
119. Zhao R., Follows G.A., Beer P.A., Scott L.M., Huntly B.J., Green A.R., Alexander D.R. Inhibition of the Bcl-xL deamidation pathway in myeloproliferative disorders. N. Engl. J. Med. 2008, 359:2778-2789.