The incidence of JAK2 V617F mutation in bcr/abl-negative chronic myeloproliferative disorders: assessment by two different detection methods

References

• Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951; 6: 372–375
   PubMed Web of Science ®Google Scholar
• Campbell P J, Green A R. The myeloproliferative disorders. N Engl J Med 2006; 355: 2452–2466
   PubMed Web of Science ®Google Scholar
• Baxter E J, Scott L M, Campbell P J, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054–1061
   PubMed Web of Science ®Google Scholar
• Levine R L, Wadleigh M, Cools J, Ebert B L, Wernig G, Huntly B 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
   PubMed Web of Science ®Google Scholar
• James C, Ugo V, Le Couedic J P, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144–1148
   PubMed Web of Science ®Google Scholar
• Kralovics R, Passamonti F, Buser A S, Teo S S, Tiedt R, Passweg J R, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779–1790
   PubMed Web of Science ®Google Scholar
• Nelson M E, Steensma D P. JAK2 V617F in myeloid disorders: what do we know now, and where are we headed?. Leuk Lymphoma 2006; 47: 177–194
   PubMed Web of Science ®Google Scholar
• McClure R, Mai M, Lasho T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia 2006; 20: 168–171
   PubMed Web of Science ®Google Scholar
• Steensma D P, Dewald G W, Lasho T L, Powell H L, McClure R F, Levine R L, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both “atypical” myeloproliferative disorders and myelodysplastic syndromes. Blood 2005; 106: 1207–1209
   PubMed Web of Science ®Google Scholar
• Levine R L, Loriaux M, Huntly B J, Loh M L, Beran M, Stoffregen E, 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
   PubMed Web of Science ®Google Scholar
• Sidon P, El Housni H, Dessars B, Heimann P. The JAK2V617F mutation is detectable at very low level in peripheral blood of healthy donors. Leukemia 2006; 20: 1622
   PubMed Web of Science ®Google Scholar
• Xu X, Zhang Q, Luo J, Xing S, Li Q, Krantz S B, et al. JAK2(V617F): prevalence in a large Chinese hospital population. Blood 2007; 109: 339–342
   PubMed Web of Science ®Google Scholar
• Greiner T C. Diagnostic assays for the JAK2 V617F mutation in chronic myeloproliferative disorders. Am J Clin Pathol 2006; 125: 651–653
   PubMed Web of Science ®Google Scholar
• Lasho T L, Mesa R, Gilliland D G, Tefferi A. Mutation studies in CD3+, CD19+ and CD34+ cell fractions in myeloproliferative disorders with homozygous JAK2(V617F) in granulocytes. Br J Haematol 2005; 130: 797–799
   PubMed Web of Science ®Google Scholar
• Tefferi A, Lasho T L, Schwager S M, Steensma D P, Mesa R A, Li C Y, et al. The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol 2005; 131: 320–328
   PubMed Web of Science ®Google Scholar
• Passamonti F, Rumi E, Pietra D, Della Porta M G, 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: 3676–3682
   PubMed Web of Science ®Google Scholar
• Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz S B, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 2005; 280: 22788–22792
   PubMed Web of Science ®Google Scholar
• Sidon P, Heimann P, Lambert F, Dessars B, Robin V, El Housni H. Combined locked nucleic acid and molecular beacon technologies for sensitive detection of the JAK2V617F somatic single-base sequence variant. Clin Chem 2006; 52: 1436–1438
   PubMed Web of Science ®Google Scholar
• Tan A Y, Westerman D A, Dobrovic A. A simple, rapid, and sensitive method for the detection of the JAK2 V617F mutation. Am J Clin Pathol 2007; 127: 977–981
   PubMed Web of Science ®Google Scholar
• Steensma D P. JAK2 V617F in myeloid disorders: molecular diagnostic techniques and their clinical utility: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 2006; 8: 397–411, quiz 526
   PubMed Web of Science ®Google Scholar
• Cheung B, Radia D, Pantelidis P, Yadegarfar G, Harrison C. The presence of the JAK2 V617F mutation is associated with a higher haemoglobin and increased risk of thrombosis in essential thrombocythaemia. Br J Haematol 2006; 132: 244–245
   PubMed Web of Science ®Google Scholar
• Campbell P J, Scott L M, Buck G, Wheatley K, East C L, Marsden J T, 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
   PubMed Web of Science ®Google Scholar
• Wolanskyj A P, Lasho T L, Schwager S M, McClure R F, Wadleigh M, Lee S J, et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005; 131: 208–213
   PubMed Web of Science ®Google Scholar
• Campbell P J, Griesshammer M, Dohner K, Dohner H, Kusec R, Hasselbalch H C, et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood 2006; 107: 2098–2100
   PubMed Web of Science ®Google Scholar
• Vardiman J W, Harris N L, Brunning R D. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100: 2292–2302
   PubMed Web of Science ®Google Scholar
• Popat U, Frost A, Liu E, Guan Y, Durette A, Reddy V, et al. High levels of circulating CD34 cells, dacrocytes, clonal hematopoiesis, and JAK2 mutation differentiate myelofibrosis with myeloid metaplasia from secondary myelofibrosis associated with pulmonary hypertension. Blood 2006; 107: 3486–3488
   PubMed Web of Science ®Google Scholar
• Patel R K, Lea N C, Heneghan M A, Westwood N B, Milojkovic D, Thanigaikumar M, et al. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology 2006; 130: 2031–2038
   PubMed Web of Science ®Google Scholar
• Jones A V, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 106: 2162–2168
   PubMed Web of Science ®Google Scholar
• Gattenlohner S, Peter C, Bonenge M, Einsele H, Bargou R, Müller-Hermelink H K, et al. Detecting the JAK2 V617F mutation in fresh and ‘historic’ blood and bone marrow. Leukemia 2007; 21: 1599–1602
   PubMed Web of Science ®Google Scholar
• Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal J T, Verstovsek S, et al. 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
   PubMed Web of Science ®Google Scholar
• Tefferi A, Vardiman J W. The diagnostic interface between histology and molecular tests in myeloproliferative disorders. Curr Opin Hematol 2007; 14: 115–122
   PubMed Web of Science ®Google Scholar
• Tefferi A, Gilliland D G. The JAK2V617F tyrosine kinase mutation in myeloproliferative disorders: status report and immediate implications for disease classification and diagnosis. Mayo Clin Proc 2005; 80: 947–958
   PubMed Web of Science ®Google Scholar
• James C, Delhommeau F, Marzac C, Teyssandier I, Couedic J P, Giraudier S, et al. Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia 2006; 20: 350–353
   PubMed Web of Science ®Google Scholar
• Hammond E, Shaw K, Carnley B, P'ng S, James I, Herrmann R. Quantitative determination of JAK2 V617F by TaqMan: an absolute measure of averaged copies per cell that may be associated with the different types of myeloproliferative disorders. J Mol Diagn 2007; 9: 242–248
   PubMed Web of Science ®Google Scholar
• Vannucchi A M, 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: 1952–1959
   PubMed Web of Science ®Google Scholar
• Vannucchi A M, 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: 840–846
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar