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JAK2V617F allele burden, JAK2 46/1 haplotype and clinical features of Chinese with myeloproliferative neoplasms

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  1. 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: 3931–3940.

    Article  CAS  Google Scholar 

  2. 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: 3676–3682.

    Article  CAS  Google Scholar 

  3. 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.

    Article  CAS  Google Scholar 

  4. Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L et al. A prospective study of 338 subjects with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia 2010; 24: 1574–1579.

    Article  CAS  Google Scholar 

  5. Shih AH, Abdel-Wahab O, Patel JP, Levine RL . The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer 2012; 12: 599–612.

    Article  CAS  Google Scholar 

  6. Jones AV, Chase A, Silver RT, Oscier D, Zoi K, Wang YL et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 2009; 41: 446–449.

    Article  CAS  Google Scholar 

  7. Kilpivaara O, Mukherjee S, Schram AM, Wadleigh M, Mullally A, Ebert BL et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms. Nat Genet 2009; 41: 455–459.

    Article  CAS  Google Scholar 

  8. Olcaydu D, Harutyunyan A, Jager R, Berg T, Gisslinger B, Pabinger I et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet 2009; 41: 450–454.

    Article  CAS  Google Scholar 

  9. Jones AV, Campbell PJ, Beer PA, Schnittger S, Vannucchi AM, Zoi K et al. The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms. Blood 2010; 115: 4517–4523.

    Article  CAS  Google Scholar 

  10. Xu Z, Gale RP, Zhang Y, Qin T, Chen H, Zhang P et al. Unique features of primary myelofibrosis in Chinese. Blood 2012; 119: 2469–2473.

    Article  CAS  Google Scholar 

  11. Lippert E, Girodon F, Hammond E, Jelinek J, Reading NS, Fehse B et al. Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica 2009; 94: 38–45.

    Article  CAS  Google Scholar 

  12. Guglielmelli P, Biamonte F, Spolverini A, Pieri L, Isgrò A, Antonioli E et al. Frequency and clinical correlates of JAK2 46/1 (GGCC) haplotype in primary myelofibrosis. Leukemia 2010; 24: 1533–1537.

    Article  CAS  Google Scholar 

  13. Pardanani A, Lasho TL, Finke CM, Gangat N, Wolanskyj AP, Hanson CA et al. 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: 110–114.

    Article  CAS  Google Scholar 

  14. Olcaydu D, Skoda RC, Looser R, Li S, Cazzola M, Pietra D et al. The ‘GGCC’ haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera. Leukemia 2009; 23: 1924–1926.

    Article  CAS  Google Scholar 

  15. Tefferi A, Lasho TL, Patnaik MM, Finke CM, Hussein K, Hogan WJ et al. 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: 105–109.

    Article  CAS  Google Scholar 

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This study was supported in part by National Natural Science Funds (No. 81070403,No. 81270585), Tianjin Key Natural Science Funds (12JCZDJC23900), National Public Health Grand Research Foundation (No.201202017) and National Science and Technology Major Project (2011ZX09302-007-04)(to ZX). NCPC and AVJ were supported by Leukemia and Lymphoma Research (UK) and the Kay Kendall Leukemia Fund. RPG acknowledges support from the NIHR Biomedical Research Center funding scheme.

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Correspondence to Z Xiao.

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RPG is a part-time employee of Celgene Corp., Summit, NJ. All other authors declare no conflict of interest.

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Wang, J., Xu, Z., Liu, L. et al. JAK2V617F allele burden, JAK2 46/1 haplotype and clinical features of Chinese with myeloproliferative neoplasms. Leukemia 27, 1763–1767 (2013).

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