Clonal analyses reveal associations of JAK2V617F homozygosity with hematologic features, age and gender in polycythemia vera and essential thrombocythemia

Haematologica

Volumn 98, Issue 5, 2013, Pages 718-721

  Godfrey, Anna L ^a,b,c   Chen, Edwin ^a,b,c   Pagano, Francesca ^a   Silber, Yvonne ^a,c   Campbell, Peter J ^d   Green, Anthony R ^a,b,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGE; ARTICLE; BLOOD CELL COUNT; ERYTHROPOIESIS; FEMALE; GENDER; GENE; HOMOZYGOSITY; HUMAN; JAK2V617F GENE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POLYCYTHEMIA VERA; PRECURSOR; RETROSPECTIVE STUDY; SEX DIFFERENCE; THROMBOCYTHEMIA;

EID: 84877046594     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.079129     Document Type: Article

References (24)

1. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006;355(23):2452-66.
2. 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.
3. Dupont S, Masse A, James C, Teyssandier I, Lecluse Y, Larbret F, et al. The JAK2 V617F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. Blood. 2007; 110(3):1013-21.
4. Godfrey AL, Chen E, Pagano F, Ortmann CA, Silber Y, Bellosillo B, et al. JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone. Blood. 2012;120(13):2704-7.
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;111(8):3931-40.
6. Lacout C, Pisani DF, Tulliez M, Gachelin FM, Vainchenker W, Villeval JL. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood. 2006;108 (5):1652-60.
7. Vannucchi AM, 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(3):840-6.
8. Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L, et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia. 2010;24(9):1574-9.
9. Mullally A, Lane SW, Ball B, Megerdichian C, Okabe R, Al-Shahrour F, et al. Physiological Jak2V617F expression causes a lethal myeloproliferative neoplasm with differential effects on hematopoietic stem and progenitor cells. Cancer Cell. 2010; 17(6):584-96.
10. Akada H, Yan D, Zou H, Fiering S, Hutchison RE, Mohi MG. Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. Blood. 2010;115(17):3589-97.
11. Marty C, Lacout C, Martin A, Hasan S, Jacquot S, Birling MC, et al. Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice. Blood. 2010;116(5):783-7.
12. Li J, Spensberger D, Ahn JS, Anand S, Beer PA, Ghevaert C, et al. JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. Blood. 2010;116(9):1528-38.
13. 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.
14. Chen E, Beer PA, Godfrey AL, Ortmann CA, Li J, Costa-Pereira AP, et al. Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. Cancer Cell. 2010;18(5):524-35.
15. McMullin MF, Reilly JT, Campbell P, Bareford D, Green AR, Harrison CN, et al. Amendment to the guideline for diagnosis and investigation of polycythaemia/erythrocytosis. Br J Haematol. 2007; 138(6):821-2.
16. Harrison CN, Bareford D, Butt N, Campbell P, Conneally E, Drummond M, et al. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br J Haematol. 2010;149 (3):352-75.
17. Rossi DJ, Bryder D, Seita J, Nussenzweig A, Hoeijmakers J, Weissman IL. Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age. Nature. 2007;447(7145):725-9.
18. Preston CR, Flores C, Engels WR. Agedependent usage of double-strand-break repair pathways. Curr Biol. 2006;16(20): 2009-15.
19. McMurray MA, Gottschling DE. An ageinduced switch to a hyper-recombinational state. Science. 2003;301(5641):1908-11.
20. Ricksten A, Palmqvist L, Johansson P, Andreasson B. Rapid decline of JAK2V617F levels during hydroxyurea treatment in patients with polycythemia vera and essential thrombocythemia. Haematologica. 2008;93(8):1260-1.
21. Besses C, Alvarez-Larran A, Martinez-Aviles L, Mojal S, Longaron R, Salar A, et al. Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essential thrombocythaemia patients. Br J Haematol. 2011; 152(4):413-9.
22. Stein BL, Williams DM, Wang NY, Rogers O, Isaacs MA, Pemmaraju N, et al. Sex differences in the JAK2 V617F allele burden in chronic myeloproliferative disorders. Haematologica. 2010;95(7):1090-7.
23. Polycythemia vera: the natural history of 1213 patients followed for 20 years. Gruppo Italiano Studio Policitemia. Ann Intern Med. 1995;123(9):656-64.
24. Jensen MK, de Nully Brown P, Nielsen OJ, Hasselbalch HC. Incidence, clinical features and outcome of essential thrombocythaemia in a well defined geographical area. Eur J Haematol. 2000;65(2):132-9.