Clinical relevance of JAK2 (V617F) mutant allele burden

Haematologica

Volumn 94, Issue 1, 2009, Pages 7-10

  Passamonti, Francesco ^a   Rumi, Elisa ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

ALLELE; BAGG ALBINO MOUSE; GENE DOSAGE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LEUKOCYTE COUNT; MALIGNANT TRANSFORMATION; MUTANT; MUTATIONAL ANALYSIS; MYELOFIBROSIS; MYELOPOIESIS; MYELOPROLIFERATIVE DISORDER; NONHUMAN; PHENOTYPIC VARIATION; PHILADELPHIA CHROMOSOME NEGATIVE CELL; POLYCYTHEMIA VERA; REVIEW; STRAIN DIFFERENCE; THROMBOCYTHEMIA; THROMBOSIS; TRANSGENIC MOUSE; X CHROMOSOME INACTIVATION;

ALLELES; FEMALE; HUMANS; JANUS KINASE 2; MALE; MUTATION; PEDIGREE; PHENOTYPE; PHENYLALANINE; THROMBOCYTHEMIA, ESSENTIAL; VALINE;

EID: 58149267988     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.2008.001271     Document Type: Review

References (23)

1. 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;352:1779-90.
2. Cazzola M, Skoda R. Gain of function, loss of control - a molecular basis for chronic myeloproliferative disorders. Haematologica 2005;90:871-4.
3. De Stefano V, Za T, Rossi E, Vannucchi AM, Ruggeri M, Elli E, et al. Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. Haematologica 2008;93:372-80.
4. Passamonti F, Rumi E, Arcaini L, Boveri E, Elena C, Pietra D, et al. Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica 2008;93:1645-51.
5. Tiedt R, Hao-Shen H, Sobas MA, Looser R, Dirnhofer S, Schwaller J, et al. Ratio of mutant JAK2-V617F to wildtype Jak2 determines the MPD phenotypes in transgenic mice. Blood 2008;111:3931-40.
6. Scott LM, Scott MA, Campbell PJ, Green AR. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006;108:2435-7.
7. Rumi E, Passamonti F, Pietra D, Della Porta MG, Arcaini L, Boggi S, et al. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer 2006;107:2206-11.
8. Pardanani A, Fridley BL, Lasho TL, Gilliland DG, Tefferi A. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood 2008;111:2785-9.
9. Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006;107:4274-81.
10. Lippert E, Girodon F, Hammond E, JJelinek J, Reading NS, Fehse B, et al. Concordance of assays designed for the quatification of JAKV61F. a multicenter study. Haematologica 2009;94:38-45.
11. Passamonti F, Rumi E, Pietra D, Della Porta MG, Boveri E, Pascutto C, et al. Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. Blood 2006;107:3676-82.
12. Moliterno AR, Williams DM, Rogers O, Spivak JL. Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression. Blood 2006;108:3913-5.
13. 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; 93:41-8.
14. Vannucchi AM, Antonioli E, Guglielmelli P, Longo G, Pancrazzi A, Ponziani V, et al. Prospective identification of high-risk polycythemia vera patients based on JAK2(V617F) allele burden. Leukemia 2007;21:1952-9.
15. Tefferi A, Strand JJ, Lasho TL, Knudson RA, Finke CM, Gangat N, et al. Bone marrow JAK2V617F allele burden and clinical correlates in polycythemia vera. Leukemia 2007;21: 2074-5.
16. Passamonti F, Rumi E, Caramella M, Elena C, Arcaini L, Boveri E, et al. A dynamic prognostic model to predict survival in post-polycythemia vera myelofibrosis. Blood 2008; 111:3383-7.
17. Kittur J, Knudson RA, Lasho TL, Finke CM, Gangat N, Wolanskyj AP, et al. Clinical correlates of JAK2V617F allele burden in essential thrombocythemia. Cancer 2007;109:2279-84.
18. 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;22:756-61.
19. 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; 110:4030-6.
20. Falanga A, Marchetti M, Vignoli A, Balducci D, Russo L, Guerini V, et al. V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules. Exp Hematol 2007;35:702-11.
21. Ziakas PD. Effect of JAK2 V617F on thrombotic risk in patients with essential thrombocythemia: measuring the uncertain. Haematologica 2008;93:1412-4.
22. Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R, et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 2007;110:840-6.
23. Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 2006;106:631-5.