Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NC: Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005, 106 (6): 2162-2168. 10.1182/blood-2005-03-1320.
Article
CAS
PubMed
Google Scholar
Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC: A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005, 352 (17): 1779-1790. 10.1056/NEJMoa051113.
Article
CAS
PubMed
Google Scholar
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 (7037): 1144-1148. 10.1038/nature03546.
Article
CAS
PubMed
Google Scholar
Levine RL, Wadleigh 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 (4): 387-397. 10.1016/j.ccr.2005.03.023.
Article
CAS
PubMed
Google Scholar
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 (9464): 1054-1061.
Article
CAS
PubMed
Google Scholar
Tefferi A, Vardiman JW: Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008, 22 (1): 14-22. 10.1038/sj.leu.2404955.
Article
CAS
PubMed
Google Scholar
Jones AV, Chase A, Silver RT, Oscier D, Zoi K, Wang YL, Cario H, Pahl HL, Collins A, Reiter A, Grand F, Cross NC: JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet. 2009, 41 (4): 446-449. 10.1038/ng.334.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kilpivaara O, Mukherjee S, Schram AM, Wadleigh M, Mullally A, Ebert BL, Bass A, Marubayashi S, Heguy A, Garcia-Manero G, Kantarjian H, Offit K, Stone RM, Gilliland DG, Klein RJ, Levine RL: A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat Genet. 2009, 41 (4): 455-459. 10.1038/ng.342.
Article
CAS
PubMed
PubMed Central
Google Scholar
Olcaydu D, Harutyunyan A, Jager R, Berg T, Gisslinger B, Pabinger I, Gisslinger H, Kralovics R: A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009, 41 (4): 450-454. 10.1038/ng.341.
Article
CAS
PubMed
Google Scholar
Pardanani A, Lasho TL, Finke CM, Gangat N, Wolanskyj AP, Hanson CA, Tefferi A: The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients. Leukemia. 2010, 24 (1): 110-114. 10.1038/leu.2009.226.
Article
CAS
PubMed
Google Scholar
Tefferi A, Lasho TL, Patnaik MM, Finke CM, Hussein K, Hogan WJ, Elliott MA, Litzow MR, Hanson CA, Pardanani A: JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival. Leukemia. 2010, 24 (1): 105-109. 10.1038/leu.2009.225.
Article
CAS
PubMed
Google Scholar
Olcaydu D, Rumi E, Harutyunyan A, Passamonti F, Pietra D, Pascutto C, Berg T, Jager R, Hammond E, Cazzola M, Kralovics R: The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms. Haematologica. 2011, 96 (3): 367-374. 10.3324/haematol.2010.034488.
Article
CAS
PubMed
Google Scholar
Jones AV, Campbell PJ, Beer PA, Schnittger S, Vannucchi AM, Zoi K, Percy MJ, McMullin MF, Scott LM, Tapper W, Silver RT, Oscier D, Harrison CN, Grallert H, Kisialiou A, Strike P, Chase AJ, Green AR, Cross NC: The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms. Blood. 2010, 115 (22): 4517-4523. 10.1182/blood-2009-08-236448.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ohyashiki K, Aota Y, Akahane D, Gotoh A, Ohyashiki JH: JAK2(V617F) mutational status as determined by semiquantitative sequence-specific primer-single molecule fluorescence detection assay is linked to clinical features in chronic myeloproliferative disorders. Leukemia. 2007, 21 (5): 1097-1099.
CAS
PubMed
Google Scholar
Trifa AP, Cucuianu A, Petrov L, Urian L, Militaru MS, Dima D, Pop IV, Popp RA: The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms. Ann Hematol. 2010, 89 (10): 979-983. 10.1007/s00277-010-0960-y.
Article
CAS
PubMed
Google Scholar
Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R, Marfisi RM, Finazzi G, Guerini V, Fabris F, Randi ML, De Stefano V, Caberlon S, Tafuri A, Ruggeri M, Specchia G, Liso V, Rossi E, Pogliani E, Gugliotta L, Bosi A, Barbui T: Clinical profile of homozygous JAK2 617V > F mutation in patients with polycythemia vera or essential thrombocythemia. Blood. 2007, 110 (3): 840-846. 10.1182/blood-2006-12-064287.
Article
CAS
PubMed
Google Scholar
Patriarca A, Pompetti F, Malizia R, Iuliani O, Di Marzio I, Spadano A, Dragani A: Is the absence of JAK2 mutation a risk factor for bleeding in essential thrombocythemia? An analysis of 106 patients. Blood Transfus. 2010, 8 (1): 21-27.
PubMed
PubMed Central
Google Scholar
Colaizzo D, Tiscia GL, Bafunno V, Amitrano L, Vergura P, Lupone MR, Grandone E, Guardascione MA, Margaglione M: Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis. Thromb Res. 2011
Google Scholar
Smalberg JH, Koehler E, Darwish Murad S, Plessier A, Seijo S, Trebicka J, Primignani M, de Maat MP, Garcia-Pagan JC, Valla DC, Randi ML, De Stefano V, Caberlon S, Tafuri A, Ruggeri M, Specchia G, Liso V, Rossi E, Pogliani E, Gugliotta L, Bosi A, Barbui T: The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis. Blood. 2011, 117 (15): 3968-3973. 10.1182/blood-2010-11-319087.
Article
CAS
PubMed
Google Scholar
Kouroupi E, Kiladjian JJ, Chomienne C, Dosquet C, Bellucci S, Valla D, Cassinat B: The JAK2 46/1 haplotype in splanchnic vein thrombosis. Blood. 2011, 117 (21): 5777-5778. 10.1182/blood-2011-03-343657.
Article
CAS
PubMed
Google Scholar
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 (10): 3472-3476. 10.1182/blood-2006-04-018879.
Article
CAS
PubMed
Google Scholar
Steensma DP, Caudill JS, Pardanani A, McClure RF, Lasho TL, Tefferi A: MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. Haematologica. 2006, 91 (12 Suppl): ECR57-
PubMed
Google Scholar
Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A, Kosmider O, Le Couedic JP, Robert F, Alberdi A, Lécluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguié F, Fontenay M, Vainchenker W, Bernard OA: Mutation in TET2 in myeloid cancers. N Engl J Med. 2009, 360 (22): 2289-2301. 10.1056/NEJMoa0810069.
Article
PubMed
Google Scholar
Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adelaide J, Rey J, Vainchenker W, Bernard OA, Chaffanet M, Vey N, Birnbaum D, Mozziconacci MJ: Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009, 23 (11): 2183-2186. 10.1038/leu.2009.141.
Article
CAS
PubMed
Google Scholar
Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, Waghorn K, Zoi K, Ross FM, Reiter A, Hochhaus A, Drexler HG, Duncombe A, Cervantes F, Oscier D, Boultwood J, Grand FH, Cross NC: Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat genet. 2010, 42 (8): 722-726. 10.1038/ng.621.
Article
CAS
PubMed
Google Scholar
Pardanani A, Lasho TL, Finke CM, Mai M, McClure RF, Tefferi A: IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms. Leukemia. 2010, 24 (6): 1146-1151. 10.1038/leu.2010.77.
Article
CAS
PubMed
Google Scholar
Sanada M, Suzuki T, Shih LY, Otsu M, Kato M, Yamazaki S, Tamura A, Honda H, Sakata-Yanagimoto M, Kumano K, Oda H, Yamagata T, Takita J, Gotoh N, Nakazaki K, Kawamata N, Onodera M, Nobuyoshi M, Hayashi Y, Harada H, Kurokawa M, Chiba S, Mori H, Ozawa K, Omine M, Hirai H, Nakauchi H, Koeffler HP, Ogawa S: Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009, 460 (7257): 904-908. 10.1038/nature08240.
Article
CAS
PubMed
Google Scholar
Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, Li CY, Hanson CA, Mesa R, Bernard O, Delhommeau F, Vainchenker W, Gilliland DG, Levine RL: TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009, 23 (5): 905-911. 10.1038/leu.2009.47.
Article
CAS
PubMed
PubMed Central
Google Scholar
Klampfl T, Harutyunyan A, Berg T, Gisslinger B, Schalling M, Bagienski K, Olcaydu D, Passamonti F, Rumi E, Pietra D, Jäger R, Pieri L, Guglielmelli P, Iacobucci I, Martinelli G, Cazzola M, Vannucchi AM, Gisslinger H, Kralovics R: Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood. 2011, 118 (1): 167-176. 10.1182/blood-2011-01-331678.
Article
CAS
PubMed
Google Scholar