Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia

Blood

Volumn 112, Issue 3, 2008, Pages 844-847

  Vannucchi, Alessandro M ^a,b   Antonioli, Elisabetta ^a,b   Guglielmelli, Paola ^a,b   Panerazzi, Alessandro ^a,b   Guerini, Vittoria ^c   Barosi, Giovanni ^d   Ruggeri, Marco ^e   Specchia, Giorgina ^f   Lo Coco, Francesco ^g   Delaini, Federica ^c   Villani, Laura ^d   Finotto, Silvia ^e   Ammatuna, Emanuele ^g   Alterini, Renato ^a,b   Carrai, Valentina ^a,b   Capaccioli, Gloria ^a,b   Di Lollo, Simonetta ^h   Liso, Vincenzo ^f   Rambaldi, Alessandro ^c   Bosi, Alberto ^a,b   Barbui, Tiziano ^c   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b ISTITUTO TOSCANO TUMORI   (Italy)

^c OSPEDALI RIUNITI   (Italy)

^d C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^e SAN BORTOLO HOSPITAL   (Italy)

^f UNIVERSITY OF BARI   (Italy)

^g UNIVERSITY OF ROME TOR VERGATA   (Italy)

^h UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; JANUS KINASE 2; THROMBOPOIETIN RECEPTOR; MPL PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTERY THROMBOSIS; ARTICLE; BONE MARROW; CELL ACTIVITY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ERYTHROID CELL; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN TISSUE; MALE; MEGAKARYOCYTE; MICROVASCULATURE; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; THROMBOCYTE COUNT; THROMBOCYTHEMIA; WILD TYPE; BLOOD; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; THROMBOCYTE ACTIVATION; THROMBOSIS;

ADULT; AGED; AGED, 80 AND OVER; FEMALE; GENOTYPE; HEMOGLOBINS; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PLATELET ACTIVATION; PLATELET COUNT; RECEPTORS, THROMBOPOIETIN; THROMBOCYTHEMIA, HEMORRHAGIC; THROMBOSIS;

EID: 50949127379     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-01-135897     Document Type: Article

References (35)

1. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005; 434:1144-1148.
2. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061.
3. Levine RL, Wadleigh M, Cools J, 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.
4. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790.
5. Vannucchi AM, Antonioli E, Guglielmelli P, et al. Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia. Blood. 2007; 110:840-846.
6. Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia. 2005; 19:1847-1849.
7. Campbell PJ. Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005;366:1945-1953.
8. Wolanskyj AP, Lasho TL, Schwager SM, et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol. 2005;131:208-213.
9. Antonioli E, Guglielmelli P, Poli G, et al. Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia. Haematologica. 2008; 93:41-48.
10. Campbell PJ, Griesshammer M, Dohner K, et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood. 2006;107:2098-2100.
11. Tefferi A, Lasho TL, Schwager SM, et al. The JAK2 tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol. 2005;131:320-328.
12. Barosi G, Bergamaschi G, Marchetti M, et al. JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. Blood. 2007; 110:4030-4036.
13. Tefferi A, Lasho TL, Huang J, et al. Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior over-all and leukemia-free survival. Leukemia. 2008; 22:756-761.
14. Pardanani AD, Levine RL, LashoT, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006; 108:3472-3476.
15. Lasho TL, Pardanani A, McClure RF, et al. Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time. BrJ Haematol. 2006;135:683-687.
16. Guglielmelli P, Pancrazzi A, Bergamaschi G, et al. Anaemia characterises patients with myelofibrosis harbouring MpI mutation. Br J Haematol. 2007;137:244-247.
17. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofi brosis with myeloid metaplasia. PLoS Med (http:// medicine.plosjournals.org/). 2006;3:e270.
18. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100:2292-2302.
19. Murphy S, Peterson P, Hand H, Laszlo J. Experience of the Polycythemia Vera Study Group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment. Semin Hematol. 1997;34:29-39.
20. Policitemia GIS. Polycythemia vera: the natural history of 1213 patients followed for 20 years. Ann Intern Med. 1995;123:656-664.
21. Marchioli R, Finazzi G, Landolfi R, et al. Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol. 2005;23:2224-2232.
22. Barosi G, Mesa RA, Thiele J, et al. Proposed criteria for the diagnosis of post-polycythernia vera and post-essential thrombocythemia myelofibrosis: a consensus statement from the international working group for myelofibrosis research and treatment. Leukemia. 2008;22:437-438.
23. Levine RL, Belisle C, Wadleigh M, et al. X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. Blood. 2006;107:4139-4141.
24. Vannucchi AM, Antonioli E, Guglielmelli P, et al. Prospective identification of high-risk polycythemia vera patients based on JAK2V617F allele burden. Leukemia. 2007;21:1952-1959.
25. Pancrazzi A, Guglielmelli P, Ponziani V, et al. A sensitive detection method for MPLW515Lor W515K mutation in chronic myeloproliferative disorders with LNA-modified probes and real time PCR. J Mol Diagn. In press.
26. Thiele J, Kvasnicka HM, Facchetti F, Franco V, van der Walt J, Orazi A. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica. 2005;90:1128-1132.
27. Michiels JJ, Thiele J. Clinical and pathological criteria for the diagnosis of essential thrombocythemia, polycythemia vera, and idiopathic myelofibrosis (agnogenic myeloid metaplasia). Int J Hematol. 2002;76:133-145.
28. Chaligné R, James C, Tonetti C, et al. Evidence for MPLW515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. Blood. 2007; 110:3735-3743.
29. Pardanani A, Lasho TL, Finke C, et al. Extending JAK2V617F and MPLW515 mutation analysis to single hematopoietic colonies and B- and T-lymphocytes. Stem Cells. 2007;25:2358-2362.
30. Staerk J, Lacout C, Sato T Smith SO, Vainchenker W, Constantinescu SN. An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor. Blood. 2006;107:1864-1871.
31. Akkerman JW. Thrombopoietin and platelet function. Semin Thromb Hemost. 2006;32:295-304.
32. Usuki K, Iki S, Endo M, et al. Influence of thrombopoietin on platelet activation in myeloproliferative disorders. Br J Haematol. 1997;97:530-537.
33. Beer PA, Campbell P. Scott LM. et al. MPL mutations in myeloproliferative disorders: analysis of thePT-1 cohort. Blood. 2008;112:141-149.
34. Williams DM, Kim AH, Rogers O, Spivak JL, Moliterno AR. Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis. Exp Hematol. 2007;35:1641-1646.
35. Tefferi A, Thiele J, Orazi A, et al. 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.