MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on TaqMan MGB probes

Hematological Oncology

Volumn 28, Issue 1, 2010, Pages 33-39

  Ruan, Guo Rui ^a   Jiang, Bin ^a   Li, Ling Di ^a   Niu, Ji Hong ^a   Li, Jin Lan ^a   Xie, Min ^a   Qin, Ya Zhen ^a   Liu, Yan Rong ^a   Huang, Xiao Jun ^a   Chen, Shan Shan ^a  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; DNA; JAK2 PROTEIN, HUMAN; MPL PROTEIN, HUMAN; THROMBOPOIETIN RECEPTOR;

ARTICLE; CHINESE; CHRONIC MYELOID LEUKEMIA; CHRONIC MYELOPROLIFERATIVE DISORDER; CONTROLLED STUDY; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HYPEREOSINOPHILIC SYNDROME; MPL GENE; MYELOPROLIFERATIVE DISORDER; POLYCYTHEMIA VERA; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; ADULT; ASIAN; BLOOD; CANCER STAGING; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROGNOSIS; SENSITIVITY AND SPECIFICITY; SURVIVAL RATE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA; HUMANS; JANUS KINASE 2; MOLECULAR SEQUENCE DATA; MUTATION; MYELOPROLIFERATIVE DISORDERS; NEOPLASM STAGING; POLYMERASE CHAIN REACTION; PROGNOSIS; RECEPTORS, THROMBOPOIETIN; SENSITIVITY AND SPECIFICITY; SURVIVAL RATE;

EID: 77950901593     PISSN: 02780232     EISSN: 10991069     Source Type: Journal    
DOI: 10.1002/hon.899     Document Type: Article

References (27)

1. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100: 2292-2302.
2. Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, 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.
3. James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature 2005; 434: 1144-1148. (Pubitemid 40663494)
4. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-1061.
5. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, 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.
6. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-1790. (Pubitemid 40570926)
7. Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R, et al. Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 2007; 110: 840-846. (Pubitemid 47267419)
8. Antonioli E, Guglielmelli P, Pancrazzi A, Bogani C, Verrucci M, Ponziani V, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 2005; 19: 1847-1849.
9. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, 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.
10. Wolanskyj AP, Lasho TL, Schwager SM, McClure RF,Wadleigh M, Lee SJ, et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005; 131: 208-213.
11. Antonioli E, Guglielmelli P, Poli G, Bogani C, Pancrazzi A, Longo G, et al. Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia. Haematologica 2008; 93: 41-48.
12. Campbell PJ, Griesshammer M, Döhner K, Döhner H, Kusec R, Hasselbalch HC, et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood 2006; 107: 2098-2100.
13. Tefferi A, Lasho TL, Schwager SM, Steensma DP, Mesa RA, Li CY, et al. The JAK2 tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol 2005; 131: 320-328. (Pubitemid 43899664)
14. Barosi G, Bergamaschi G, Marchetti M, Vannucchi AM, Guglielmelli P, Antonioli E, et al. JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. Blood 2007; 110: 4030-4036.
15. Tefferi A, Lasho TL, Huang J, Finke C, Mesa RA, Li CY, et al. Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival. Leukemia 2008; 22: 756-761.
16. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006; 3: 270.
17. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006; 108: 3472-3476.
18. Guglielmelli P, Pancrazzi A, Bergamaschi G, Rosti V, Villani L, Antonioli E, et al. Anaemia characterizes patients with myelofibrosis harbouring Mpl mutation. Br J Haematol 2007; 137: 244-247.
19. Lasho TL, Pardanani A, McClure RF, Mesa RA, Levine RL, Gilliland DG, et al. 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.
20. Staerk J, Lacout C, Sato T, Smith SO, Vainchenker W, Constantinescu SN. An amphipathic motif at the transmembranecytoplasmic junction prevents autonomous activation of the thrombopoietin receptor. Blood 2006; 107: 1864-1871.
21. Ruan GR, Chen SS, Li LD, Liu YR, Qin YZ, Li JL, et al. Detection of JAK2V617F mutation in patients with myeloproliferative disorders with TaqMan-MGB probe (in Chinese). Zhonghua Yi Xue Za Zhi 2007; 87(34): 2401-2404.
22. Vannucchi AM, Antonioli E, Guglielmelli P, Pancrazzi A, Guerini V, Barosi G, et al. Characteristics and clinical correlates of MPL515W>L/K mutation in essential thrombocythemia. Blood 2008; 112(3): 844-847.
23. Alessandro P, Paola G, Vanessa P, Gaetano B, Alberto B, Giovanni B, et al. A sensitive detection method for MPLW515L or MPLW515K mutation in chronic myeloproliferative disorders with locked nucleic acid-modified probes and real-time polymerase chain reaction. J Mol Diagn 2008; 10(5): 435-441.
24. Xu W, Li JY, Xia J, Zhang SJ, Fan L, Qiao C. MPLW515L mutation in Chinese patients with myeloproliferative diseases. Leuk Lymphoma 2008; 49(5): 955-958.
25. Hu WY, Zhao Y, Ishii T, Sozer S, Shi J, Zhang W, et al. Haematopoietic cell lineage distribution of MPLW515 L/K mutations in patients with idiopathic myelofibrosis. Br J Haematol 2007; 137: 378-379.
26. Pardanani A, Lasho TL, Finke C, Markovic SN, Tefferi A. Demonstration of MPLW515K, but not JAK2V617F, in vitro expanded CD4+T lymphocytes. Leukemia 2007; 21: 2206-2207.
27. Chaligne R, James C, Tonetti C, Besancenot R, Le Couedic JP, Fava F, et al. Evidence for MPL W515 L/K mutations in hematopoietic stem cells in primitive myelofibrosis. Blood 2007; 110: 3735-3743.