Involvement of various hematopoietic-cell lineages by the JAK2 V617F mutation in polycythemia vera

Blood

Volumn 108, Issue 9, 2006, Pages 3128-3134

  Ishii, Takefumi ^a   Bruno, Edward ^a   Hoffman, Ronald ^a   Xu, Mingjiang ^a  

^a UNIVERSITY OF ILLINOIS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD19 ANTIGEN; CD3 ANTIGEN; CD33 ANTIGEN; CD34 ANTIGEN; ERYTHROPOIETIN; GLYCOPHORIN A; GRANULOCYTE COLONY STIMULATING FACTOR; INTERLEUKIN 3; INTERLEUKIN 6; JANUS KINASE 2; STEM CELL FACTOR;

ALLELE; ARTICLE; B LYMPHOCYTE; BONE MARROW CELL; CD34 SELECTION; CELL CULTURE; CELL DIFFERENTIATION; CELL ISOLATION; CELL LINEAGE; CELL STRUCTURE; CELL SUBPOPULATION; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GRANULOCYTE; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROGENY; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; T LYMPHOCYTE;

EID: 33750611344     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-04-017392     Document Type: Article

References (48)

1. Hoffman R, Baker KR, Prchal JT. The polycythemias. In: Hoffman R, Benz E Jr, Shattil S, et al, eds. Hematology: Basic Principles and Practice. 4th ed. New York, NY: Churchill Livingstone; 2004:1209-1245.
2. Kralovics R, Skoda RC. Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disorders. Blood Rev. 2005;19:1-13.
3. Mesa RA. Clinical and scientific advances in the Philadelphia-chromosome negative chronic myeloproliferative disorders. Int J Hematol. 2002;76:193-203.
4. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood. 2002;100:4272-4290.
5. Prchal JF, Prchal JT. Molecular basis for polycythemia. Curr Opin Hematol. 1999;6:100-109.
6. Baxter EJ, Scott LM, Campbell PJ, et al. Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061.
7. James C, Ugo V, Couédic JPL, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148.
8. 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.
9. 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.
10. Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005;280:22788-22792.
11. Goerttler PS, Steimle C, Marz E, et al. The Jak2V617F mutation, PRV-1 overexpression and EEC formation define a similar cohort of MPD patients. Blood. Prepublished on June 28, 2005, as DOI 10.1182/blood-2005-04-1515.
12. (Now available as Blood. 2005;106:2862-2864.)
13. Spivak JL. The chronic myeloproliferative disorders: clonality and clinical heterogeneity. Semin Hematol. 2004;41:1-5.
14. Fialkow PJ, Gartler SM, Yoshida A. Clonal origin of chronic myelocytic leukemia in man. Proc Natl Acad Sci U S A. 1967;58:1468-1471.
15. Adamson JW, Fialkow PJ, Murphy S, Prchal JF, Steinmann L. Polycythemia vera: stem-cell and probable clonal origin of the disease. N Engl J Med. 1976;295:913-916.
16. Fialkow PJ, Jacobson RJ, Papayannopoulou T. Chronic myelocytic leukemia: clonal origin in a stem cell common to the granulocyte, erythrocyte, platelet and monocyte/macrophage. Am J Med. 1977;63:125-130.
17. Jacobson RJ, Salo A, Fialkow PJ. Agnogenic myeloid metaplasia: a clonal proliferation of hematopoietic stem cells with secondary myelofibrosis. Blood. 1978;51:189-194.
18. Fialkow PJ, Faguet GB, Jacobson RJ, Vaidya K, Murphy S. Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. Blood. 1981;58:916-919.
19. Fialkow PJ, Denman AM, Jacobson RJ, Lowenthal MN. Chronic myelocytic leukemia: origin of some lymphocytes from leukemic stem cells. J Clin Invest. 1978;62:815-823.
20. Martin PJ, Najfeld V, Hansen JA, Penfold GK, Jacobson RJ, Fialkow PJ. Involvement of the Blymphoid system in chronic myelogenous leukaemia. Nature. 1980;287:49-50.
21. Raskind WH, Jacobson R, Murphy S, Adamson JW, Fialkow PJ. Evidence for the involvement of B lymphoid cells in polycythemia vera and essential thrombocythemia. J Clin Invest. 1985;75:1388-1390.
22. Tsukamoto N, Morita K, Maehara T, et al. Clonality in chronic myeloproliferative disorders defined by X-chromosome linked probes: demonstration of heterogeneity in lineage involvement. Br J Haematol. 1994;86:253-258.
23. Williams CK, Ogunmola GB, Abugo O, Ukaejiofo EO, Esan GJ. Polycythaemia rubra vera associated with unbalanced expression of the X chromosome and monoclonality of T lymphocytes. Acta Haematol. 1983;70:229-235.
24. Janssen JW, Anger BR, Drexler HG, Bartram CR, Heimpel H. Essential thrombocythemia in two sisters originating from different stem cell levels. Blood. 1990;75:1633-1636.
25. Liu E, Jelinek J, Pastore YD, Guan Y, Prchal JF, Prchal JT. Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin. Blood. 2003;101:3294-3301.
26. Anger B, Janssen JW, Schrezenmeier H, Hehlmann R, Heimpel H, Bartram CR. Clonal analysis of chronic myeloproliferative disorders using Xlinked DNA polymorphisms. Leukemia. 1990;4:258-261.
27. Buschle M, Janssen JW, Drexler H, Lyons J, Anger B, Bartram CR. Evidence for pluripotent stem cell origin of idiopathic myelofibrosis: clonal analysis of a case characterized by a N-ras gene mutation. Leukemia. 1988;2:658-660.
28. Reeder TL, Bailey RJ, Dewald GW, Tefferi A. Both B and T lymphocytes may be clonally involved in myelofibrosis with myeloid metaplasia. Blood. 2003;101:1981-1983.
29. 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.
30. + cell fractions in myeloproliferative disorders with homozygous JAK2V617F in granulocytes. Br J Haematol. 2005;130:797-799.
31. Tefferi A, Lasho TL, Gilliland G. JAK2 mutations in myeloproliferative disorders. N Engl J Med. 2005;353:1416-1417.
32. Weissman IL. Stem cells: units of development, units of regeneration, and units in evolution. Cell. 2000;100:157-168.
33. Bonnet D. Haematopoietic stem cells. J Pathol. 2002;197:430-440.
34. Kondo M, Weissman IL, Akashi K. Identification of clonogenic common lymphoid progenitors in mouse bone marrow. Cell. 1997;91:661-672.
35. Kondo M, Scherer DC, King AG, Manz MG, Weissman IL. Lymphocyte development from hematopoietic stem cells. Curr Opin Genet Dev. 2001;11:520-526.
36. Akashi K, Reya T, Dalma-Weiszhausz D, Weissman IL. Lymphoid precursors. Curr Opin Immunol. 2000;12:144-150.
37. Hou YH, Srour EF, Ramsey H, Dahl R, Broxmeyer HE, Hromas R. Identification of a human B-cell/myeloid common progenitor by the absence of CXCR4. Blood. 2005;105:3488-3492.
38. Payne KJ, Crooks GM. Human hematopoietic lineage commitment. Immunol Rev. 2002;187:48-64.
39. Katsura Y, Kawamoto H. Stepwise lineage restriction of progenitors in lympho-myelopoiesis. Int Rev Immunol. 2001;20:1-20.
40. 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.
41. Xu M, Bruno E, Chao J, et al. The constitutive mobilization of bone marrow repopulating cells into the peripheral blood in idiopathic myelofibrosis. Blood. 2005;105:1699-1705.
42. Xu K, Lipsky RH, Mangal W, Ferro E, Goldman D. Single-nucleotide polymorphism allele frequencies determined by quantitative kinetic assay of pooled DNA. Clin Chem. 2002;48:1605-1608.
43. 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. Prepublished on January 24, 2006, as DOI 10.1182/blood-2005-09-3900.
44. (Now available as Blood. 2006;107:4139-4141.)
45. Tajima S, Tsuji K, Ebihara Y, et al. Analysis of interleukin 6 receptor and gp130 expressions and proliferative capability of human CD34+ cells. J Exp Med. 1996;184:1357-1364.
46. Jamieson CH, Gotlib J, Durocher JA, et al. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci U S A. 2006;103:6224-6229.
47. Birgegard G, Miller O, Caro J, Erslev A. Serum erythropoietin levels by radioimmunoassay in polycythaemia. Scand J Haematol. 1982;29:161-167.
48. Prchal JT, Chang KT, Jelinek J, et al. In vitro expansion of polycythemia vera progenitors favors expansion of erythroid precursors without JAK2V617F mutation [abstract]. Blood. 2005;106:979a.