The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera

Blood

Volumn 110, Issue 3, 2007, Pages 1013-1021

  Dupont, Sabrina ^a   Massé, Aline ^a   James, Chloé ^a   Teyssandier, Irène ^b   Lécluse, Yann ^c   Larbret, Frédéric ^a   Ugo, Valérie ^d   Saulnier, Patrick ^c   Koscielny, Serge ^c   Le Couédic, Jean Pierre ^a   Casadevall, Nicole ^a,b,e   Vainchenker, William ^a   Delhommeau, François ^a,b,e  

^a INSERM   (France)

^b HÔTEL DIEU   (France)

^c INSTITUT GUSTAVE ROUSSY   (France)

^d BREST UNIVERSITY HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; JANUS KINASE 2; MUTANT PROTEIN;

ADULT; AGED; ARTICLE; ERYTHROID PRECURSOR CELL; FEMALE; GENE; GENE MUTATION; GENOTYPE; GRANULOCYTE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAK2 GENE; MAJOR CLINICAL STUDY; MALE; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THROMBOCYTHEMIA;

EID: 34547936938     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-10-054940     Document Type: Article

References (27)

1. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148.
2. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061.
3. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-397.
4. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790.
5. Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood. 2006;108:1865-1867.
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;108:1652-1660.
7. Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood. 2006;107:4274-4281.
8. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30:229-236.
9. 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;108:2435-2437.
10. Montagna C, Massaro P, Morali F, Foa P, Maiolo AT, Eridani S. In vitro sensitivity of human erythroid progenitors to hemopoietic growth factors: studies on primary and secondary polycythemia. Haematologica. 1994;79:311-318.
11. Casadevall N, Vainchenker W, Lacombe C, et al. Erythroid progenitors in polycythemia vera: demonstration of their hypersensitivity to erythropoietin using serum free cultures. Blood. 1982;59:447-451.
12. Spivak JL, Barosi G, Tognoni G, et al. Chronic myeloproliferative disorders. Hematology (Am Soc Hematol Educ Program). 2003:200-224.
13. Dai C, Chung IJ, Krantz SB. Increased erythropoiesis in polycythemia vera is associated with increased erythroid progenitor proliferation and increased phosphorylation of Akt/PKB. Exp Hematol. 2005;33:152-158.
14. Pearson TC. Evaluation of diagnostic criteria in polycythemia vera. Semin Hematol. 2001;38:21-24.
15. Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. (2001). Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; World Health Organization Classification of Tumours; vol 3.
16. Debili N, Coulombel L, Croisille L, et al. Characterization of a bipotent erythro-megakaryocytic progenitor in human bone marrow. Blood. 1996;88:1284-1296.
17. Ugo V, Marzac C, Teyssandier I, et al. Multiple signaling pathways are involved in erythropoietinin-dependent differentiation of erythroid progenitors in polycythemia vera. Exp Hematol. 2004;32:179-187.
18. Delhommeau F, Dupont S, Tonetti C, et al. Evidence that the JAK2 G1849T (V617F) mutation occurs in a lympho-myeloid progenitor in polycythemia vera and idiopathic myelofibrosis. Blood 2006. DOI 1.1182/blood-2006-03-007146.
19. Bennaceur-Griscelli A, Tourino C, Izac B, Vainchenker W, Coulombel L. Murine stromal cells counteract the loss of long-term culture-initiating cell potential induced by cytokines in CD34(+)CD38(low/neg) human bone marrow cells. Blood. 1999;94:529-538.
20. James C, Delhommeau F, Marzac C, et al. Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia. 2006;20:350-353.
21. Levine RL, Belisle C, Wadleigh M, et al. X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. Blood. 2006;107:4139-4141.
22. Walz C, Crowley BJ, Hudon HE, et al. Activated Jak2 with the V617F point mutation promotes G1/S phase transition. J Biol Chem. 2006;281:18177-18183.
23. Lelievre H, Cervera N, Finetti P, et al. Oncogenic kinases of myeloproliferative disorders induce both protein synthesis and G1 activators. Leukemia. 2006;20:1885-1888.
24. Ishii T, Bruno E, Hoffman R, Xu M. Involvement of various hematopoietic cell lineages by the JAK2V617F mutation in polycythemia vera. Blood. 2006; 3128-3134.
25. Jamieson CHM, Gotlib J, Durocher JA, et al. The JAK2 V617F mutation occurs in hematopoietic stem cells and predisposes toward erythroid differentiation. Proc. Natl. Acad. Sci. U S A. 2006;103:6224-6229.
26. Kralovics R, Teo SS, Li S, et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood. 2006;108:1377-1380.
27. Kiladjian JJ, Elkassar N, Cassinat B, et al. Essential thrombocythemias without V617F JAK2 mutation are clonal hematopoietic stem cell disorders. Leukemia. 2006;20:1181-1183.