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

Leukemia

Volumn 27, Issue 8, 2013, Pages 1763-1767

  Wang, J ^a   Xu, Z ^a   Liu, L ^a   Gale, R P ^b   Cross, N C P ^c,d   Jones, A V ^c,d   Qin, T ^a   Ai, X ^a   Xu, J ^a   Zhang, T ^a   Sun, X ^a   Li, Q ^a   Zhang, P ^e   Zhang, Y ^a   Xiao, Z ^a  

^a INSTITUTE OF HEMATOLOGY AND BLOOD DISEASES HOSPITAL   (China)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e Blood Diseases Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HEMOGLOBIN; JANUS KINASE 2;

BONE MARROW BIOPSY; CANCER PROGNOSIS; CANCER SURVIVOR; CHINESE; CLINICAL FEATURE; EXON; FOLLOW UP; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC PREDISPOSITION; GENOTYPE; HAPLOTYPE; HEMOGLOBIN BLOOD LEVEL; HEMOGLOBIN DETERMINATION; HOMOZYGOSITY; HUMAN; INFORMED CONSENT; LETTER; MYELOID METAPLASIA; POLYCYTHEMIA VERA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPLENOMEGALY; THROMBOCYTHEMIA;

ALLELES; HAPLOTYPES; HUMANS; JANUS KINASE 2; MYELOPROLIFERATIVE DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84881481843     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.21     Document Type: Letter

References (15)

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 trans-genic mice. Blood 2008; 111: 3931-3940.
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.
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. (Pubitemid 351156150)
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
14. Olcaydu D, Skoda RC, Looser R, Li S, Cazzola M, Pietra D et al. The 'GGCC' hap-lotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive poly-cythemia vera. Leukemia 2009; 23: 1924-1926.
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.