Mutations in the JAK2 and MPL genes and their correlation to clinical parameters in patients with chronic myeloproliferative disease

Onkologie

Volumn 32, Issue 4, 2009, Pages 191-195

  Bojko, Peter ^a,c   Abenhardt, Wolfgang ^a   Schnittger, Susanne ^b   Haferlach, Torsten ^b  

^a Diagnostik München   (Germany)

^b MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^c Zentrum für Onkologische Diagnostik und Therapie   (Germany)

Author keywords

Chronic myeloproliferative disease; JAK2; MPL515 mutation; Treatment

Indexed keywords

JANUS KINASE 2;

ADULT; ARTICLE; CHRONIC DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MPL GENE; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; ONSET AGE; POLYCYTHEMIA VERA; THROMBOCYTHEMIA;

ADULT; AGED; AGED, 80 AND OVER; CHRONIC DISEASE; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MYELOPROLIFERATIVE DISORDERS; RECEPTORS, THROMBOPOIETIN; STATISTICS AS TOPIC;

EID: 65349170996     PISSN: 0378584X     EISSN: None     Source Type: Journal    
DOI: 10.1159/000203332     Document Type: Article

References (24)

1. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR: Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365:1054-1061.
2. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C, Garcon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W: A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005;434:1144- 1148.
3. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg J, Tichelli A, Cazzola M, Skoda RC: A gain of function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779-1790.
4. Levine RL, Waldleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Fröhling S, Döhner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG: Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005;7:378-397.
5. Gattermann N, Billiet J, Kronenwett R, Zipperer E, Germing U, Nollet F, Criel A, Selleslag D: High frequency of the JAK2V617F mutation in sideroblastic anemia with thrombocytosis. Onkologie 2006;29 (suppl 3):15.
6. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow MR, Gilliland DG, Tefferi A: MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006;108:3472-3476.
7. Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A: Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 2007;21:1960-1963.
8. Schnittger S, Bacher U, Kern W, Schröder M, Haferlach T, Schoch C: Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E. Leukemia 2006;20:2195-2197.
9. Schnittger S, Bacher U, Haferlach C, Dengler R, Kröber A, Kern W, Haferlach T: Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. Leukemia 2008;22:453-455.
10. Dameshek W: Some speculations on the myeloproliferative syndrome. Blood 1951;6:372-375.
11. Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, Barosi G, Verstovsek S, Birgegard G, Mesa R, Reilly JT, Gisslinger H, Vannucchi AM, Cervantes F, Finazzi G, Hoffman R, Gilliland DG, Bloomfield CD, Vardiman JW: Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. Blood 2007;110:1092-1097.
12. Mesa RA: Navigating the evolving paradigms in the diagnosis and treatment of myeloproliferative disorders; in: Hematology 2007. American Society of Hematolgy Education Program Book. Washington, DC, USA. American Society of Hematology, 2007, pp 355-362.
13. Niederle N, Weidmann B: Essenzielle oder idio- pathische Thrombozythämie, Polycythaemia (rubra) vera und sonstige myeloproliferative Erkrankungen; in: Seeber S, Schütte J (eds): Therapiekonzepte Onkologie, Vol. 5. Heidelberg, Springer, 2007, pp 306-317.
14. Di Nisio M, Barbui T, Di Gennari L, Borrelli G, Finazzi G, Landolfi R, Leone G, Marfisi R, Porreca E, Ruggeri M, Rutjes AW, Tognoni G, Vannucchi AM, Marchioli R; European Collaboration on Low-dose Aspirin in Polycythemia vera (ECLAP) Investigators: The haematocrit and platelet targets in polycythemia vera. Br J Haematol 2007;136:249-259.
15. Harrison CN, Campbell PJ, Buck G, Wheatley K, East CL, Bareford D, Wilkins BS, van der Walt JD, Reilly JT, Grigg AP, Revell P, Woodcock BE, Green AR: Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med 2005;353:33-45.
16. Landolfi R, Marchioli R, Kutti J, Gisslinger H, Tognoni G, Patrono C, Barbui T; European Collaboration on Low-dose Aspirin in Polycythemia vera (ECLAP) Investigators: Efficacy and safety of low-dose aspirin in polycythemai vera. N Engl J Med 2004;350:114-124.
17. Kruth J, Erben P, Metzgeroth G, Müller M, Schenk T, Lauber S, Walz C, Hehlmann R, Hochhaus A, Reiter A: Sensitive detection and quantification of the JAK2 V617F mutation in BCR-ABL negative chronic myeloproliferative disorders by novel PCR applications. Onkologie 2006;29 (suppl 3):31.
18. Lasho TL, Pardanani A, McClure RF, Mesa RA, Levine RL, Gilliland DG, Tefferi A: Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time. Br J Haematol 2006; 135:683-687.
19. Kiladjian JJ, Cervantes F, Leebeek FW, Marzac C, Cassinat B, Chevret S, Cazals-Hatem D, Plessier A, Garcia-Pagan JC, Darwish Murad S, Raffa S, Janssen HL, Gardin C, Cereja S, Tonetti C, Giraudier S, Condat B, Casadevall N, Fenaux P, Valla DC: The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis. A report on 241 cases. Blood 2008;111:4922-4929.
20. Druker BJ, Talpaz M, Resta DJ, Peng B, Buchdunger E, Ford JM, Lydon NB, Kantarjian H, Capdeville R, Ohno-Jones S, Sawyers CL: Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med 2001;344:1031-1037.
21. Grandage VL, Everington T, Linch DC, Khwaja A: Gö6976 is a potent inhibitor of the JAK2 and FLT3 tyrosine kinases with significant activity in primary acute myeloid leukaemia cells. Br J Haematol 2006; 135:303-316.
22. Li Z, Xu M, Xing S, Ho WT, Ishii T, Li Q, Fu X, Zhao ZJ: Erlotinib effectively inhibits JAK2V617F activity and polycythemia vera cell growth. J Biol Chem 2007;282:3428-3432.
23. Pardanani A, Hood J, Lasho T, Levine RL, Martin MB, Noronha G, Finke C, Mak CC, Mesa R, Zhu H, Soll R, Gilliland DG, Tefferi A: TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutations. Leukemia 2007;21:1658-1668.
24. Samuelsson J, Mutschler M, Birgegard G, Gram- Hansen P, Björkholm M, Pakh HL: Limited effects on JAK2 mutational status after pegylated interferon alpha-2b therapy in polycythemia vera and essential thrombocythemia. Haematologica 2006;91: 1281-1282.