Sex differences in the JAK2V617F allele burden in chronic myeloproliferative disorders

Haematologica

Volumn 95, Issue 7, 2010, Pages 1090-1096

  Stein, Brady L ^a   Williams, Donna M ^a   Wang, Nae Yuh ^a,b   Rogers, Ophelia ^a   Isaacs, Mary Ann ^a   Pemmaraju, Naveen ^c   Spivak, Jerry L ^a   Moliterno, Alison R ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

JAK2V617Fallele; Myeloproliferative disorders; Phenotypes

Indexed keywords

JANUS KINASE 2; PHENYLALANINE; VALINE;

ADULT; AGE; AGED; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; FEMALE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MITOTIC RECOMBINATION; MYELOFIBROSIS; MYELOPROLIFERATIVE DISORDER; PHENOTYPE; POLYCYTHEMIA VERA; SEX DIFFERENCE; THROMBOCYTOSIS; ALLELE; GENE FREQUENCY; GENETICS; MISSENSE MUTATION;

ALLELES; FEMALE; GENE FREQUENCY; HUMANS; JANUS KINASE 2; MALE; MUTATION, MISSENSE; MYELOPROLIFERATIVE DISORDERS; SEX FACTORS;

EID: 77953857654     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.014407     Document Type: Article

References (24)

1. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30(3):229-36.
2. Moliterno AR, Williams DM, Rogers O, Isaacs MA, Spivak JL. Phenotypic variability within the JAK2 V617F-positive MPD: roles of progenitor cell and neutrophil allele burdens. Exp Hematol. 2008;36(ll):1480-6.
3. 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(12):3913-5.
4. Vannucchi AM, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia. 2008;22(7):1299-307.
5. Tiedt R, Hao-Shen H, Sobas MA, Looser R, Dirnhofer S, Schwaller J, et al. Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice. Blood. 2008;lll(8):3931-40.
6. Videbaek A. Polycythaemia vera: course and prognosis. Acta Med Scand. 1950; 138(3):179-87.
7. Lawrence JH. Polycythemia: Physiology, Diagnosis and Treatment. New York: Grune and Stratton; 1955.
8. Damon A, Holub DA. Host factors in polycythemia vera. Ann Intern Med. 1958; 49(l):43-60.
9. Calabresi P, Meyer OO. Polycythemia vera. I. Clinical and laboratory manifestations. Ann Intern Med. 1959;50(5):1182-202.
10. Modan B. Polycythemia: a review of epidemiological and clinical aspects. J Chron Dis. 1965;18:605.
11. Passamonti F, Rumi E, Pungolino E, Malabarba L, Bertazzoni P, Valentini M, et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med.2004;117(10):755-61.
12. McNally RJ, Rowland D, Roman E, Cartwright RA. Age and sex distributions of hematological malignancies in the U.K. Hematol Oncol. 1997;15(4):173-89.
13. Johansson P, Kutti J, Andreasson B, Safai-Kutti S, Vilen L, Wedel H, et al. Trends in the incidence of chronic Philadelphia chromosome negative (Ph-) myeloproliferative disorders in the city of Goteborg, Sweden, during 1983-99. J Intern Med. 2004;256(2): 161-5.
14. Pemmaraju N, Moliterno AR, Williams DM, Rogers O, Spivak JL. The quantitative JAK2 V617F neutrophil allele burden does not correlate with thrombotic risk in essential thrombocytosis. Leukemia. 2007; 21(10):2210-2.
15. Kiladjian JJ, Elkassar N, Cassinat B, Hetet G, Giraudier S, Balitrand N, et al. Essential thrombocythemias without V617F JAK2 mutation are clonal hematopoietic stem cell disorders. Leukemia. 2006;20(6):1181-3.
16. Berk PD, Goldberg JD, Donovan PB, Fruchtman SM, Berlin NI, Wasserman LR. Therapeutic recommendations in polycythemia vera based on Polycythemia Vera Study Group protocols. Semin Hematol. 1986;23(2):132-43.
17. Murphy S, Peterson P, Hand H, Laszlo J. Experience of the polycythemia vera study group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment. Semin Hematol. 1997;34(l):29-39.
18. Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B, et al. Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT). Leuk Res. 2007;31(6):737-40.
19. Barosi G. Myelofibrosis with myeloid metaplasia: diagnostic definition and prognostic classification for clinical studies and treatment guidelines. J Clin Oncol. 1999; 17(9):2954-70.
20. 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(ll):2279-84.
21. Larsen TS, Pallisgaard N, Moller MB, Hasselbalch HC. The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofi-brosis-impact on disease phenotype. Eur J Haematol. 2007;79(6):508-15.
22. Girodon F, Schaeffer C, Cleyrat C, Mounier M, Lafont I, Santos FD, et al. Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy. Haematologica. 2008;93(11): 1723-7.
23. Larsen TS, Pallisgaard N, de Strieker K, Moller MB, Hasselbalch HC. Limited efficacy of hydroxyurea in lowering of the JAK2 V617F allele burden. Hematology 2009;14(l):ll-5.
24. 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(7):2435-7.