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Volumn 19, Issue 3, 2006, Pages 387-397

Polycythemia vera and its molecular basis: An update

Author keywords

clonality; erythroid progenitors; JAK 2; polycythemia vera

Indexed keywords

ANDROGEN RECEPTOR; ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; IMATINIB; JANUS KINASE 2; PROTEIN TYROSINE PHOSPHATASE SHP 1; PROTEIN TYROSINE PHOSPHATASE SHP 2; STAT5 PROTEIN; SUPPRESSOR OF CYTOKINE SIGNALING 3;

EID: 33745079590     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beha.2005.07.003     Document Type: Review
Times cited : (7)

References (44)
  • 1
    • 0346166569 scopus 로고    scopus 로고
    • Polycythemia
    • Beutler E., Lichtman M., Coller B., et al. (Eds), McGraw-Hill, New York
    • Beutler E. Polycythemia. In: Beutler E., Lichtman M., Coller B., et al. (Eds). Williams Hematology. 6th edn (2001), McGraw-Hill, New York 689-701
    • (2001) Williams Hematology. 6th edn , pp. 689-701
    • Beutler, E.1
  • 2
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera
    • James C., Ugo V., Le Couedic J.-P., et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature 434 (2005) 1144-1148
    • (2005) Nature , vol.434 , pp. 1144-1148
    • James, C.1    Ugo, V.2    Le Couedic, J.-P.3
  • 3
    • 17644424955 scopus 로고    scopus 로고
    • A gain-of-function mutation of JAK2 in myeloproliferative disorders
    • Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352 (2005) 1779-1790
    • (2005) N Engl J Med , vol.352 , pp. 1779-1790
    • Kralovics, R.1    Passamonti, F.2    Buser, A.S.3
  • 4
    • 20244369569 scopus 로고    scopus 로고
    • Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
    • Levine R., 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 7 (2005) 387-397
    • (2005) Cancer Cell , vol.7 , pp. 387-397
    • Levine, R.1    Wadleigh, M.2    Cools, J.3
  • 5
    • 20144363192 scopus 로고    scopus 로고
    • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    • Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365 (2005) 1054-1061
    • (2005) Lancet , vol.365 , pp. 1054-1061
    • Baxter, E.J.1    Scott, L.M.2    Campbell, P.J.3
  • 6
    • 20744460045 scopus 로고    scopus 로고
    • Zhao R, Xing S, Li Z, et al. Identification of an Acquired JAK2 Mutation in Polycythemia vera. J Biol Chem 2005; 280: 22788-22792.
  • 7
    • 15244353967 scopus 로고    scopus 로고
    • X-inactivation profile reveals extensive variability in X-linked gene expression in females
    • Carrel L., and Willard H.F. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434 7031 (2005) 400-404
    • (2005) Nature , vol.434 , Issue.7031 , pp. 400-404
    • Carrel, L.1    Willard, H.F.2
  • 8
    • 0002826398 scopus 로고
    • The normal human female as a mosaic of X-chromosome activity: studies using the gene for G-6-PD deficiency as a marker
    • Beutler E., Yeh M., and Fairbanks V.F. The normal human female as a mosaic of X-chromosome activity: studies using the gene for G-6-PD deficiency as a marker. Proc Natl Acad Sci U S A 48 (1962) 9-16
    • (1962) Proc Natl Acad Sci U S A , vol.48 , pp. 9-16
    • Beutler, E.1    Yeh, M.2    Fairbanks, V.F.3
  • 9
    • 0021992165 scopus 로고
    • Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors
    • Vogelstein B., Fearon E.R., Hamilton S.R., and Feinberg A.P. Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors. Science 227 (1985) 642
    • (1985) Science , vol.227 , pp. 642
    • Vogelstein, B.1    Fearon, E.R.2    Hamilton, S.R.3    Feinberg, A.P.4
  • 10
    • 0023109203 scopus 로고
    • Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation
    • Fearon E.R., Winkelstein J.A., Civin C.I., et al. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med 316 (1987) 427-431
    • (1987) N Engl J Med , vol.316 , pp. 427-431
    • Fearon, E.R.1    Winkelstein, J.A.2    Civin, C.I.3
  • 11
    • 0025233690 scopus 로고
    • X-chromosome inactivation patterns using HGPRT and PGK polymorphisms in haematologically normal and post chemotherapy females
    • Abrahamson G., Fraser N.J., Boyd Y., and Craig I. X-chromosome inactivation patterns using HGPRT and PGK polymorphisms in haematologically normal and post chemotherapy females. Br J Haematol 74 (1990) 371-372
    • (1990) Br J Haematol , vol.74 , pp. 371-372
    • Abrahamson, G.1    Fraser, N.J.2    Boyd, Y.3    Craig, I.4
  • 12
    • 0026075627 scopus 로고
    • Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction
    • Gilliland D.G., Blanchard K.L., Levy J., et al. Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction. Proc Natl Acad Sci USA 88 (1991) 6848-6852
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 6848-6852
    • Gilliland, D.G.1    Blanchard, K.L.2    Levy, J.3
  • 14
    • 0027454606 scopus 로고
    • Transcriptional analysis of the active X-chromosome in normal and clonal hematopoiesis
    • Prchal J.T., Guan Y.L., Prchal J.F., and Barany F. Transcriptional analysis of the active X-chromosome in normal and clonal hematopoiesis. Blood 81 (1993) 269-271
    • (1993) Blood , vol.81 , pp. 269-271
    • Prchal, J.T.1    Guan, Y.L.2    Prchal, J.F.3    Barany, F.4
  • 15
    • 0038281343 scopus 로고    scopus 로고
    • Discrimination of polycythemias and thrombocytosis by novel, simple, accurate clonality assays and BFU-E response to erythropoietin
    • Liu E., Jelinek J., Pastore Y.D., et al. Discrimination of polycythemias and thrombocytosis by novel, simple, accurate clonality assays and BFU-E response to erythropoietin. Blood 101 (2003) 3294-3301
    • (2003) Blood , vol.101 , pp. 3294-3301
    • Liu, E.1    Jelinek, J.2    Pastore, Y.D.3
  • 16
    • 14644441737 scopus 로고    scopus 로고
    • Polycythemia vera and other primary polycythemias
    • Prchal J.T. Polycythemia vera and other primary polycythemias. Curr Opin Hematol 12 (2005) 112-116
    • (2005) Curr Opin Hematol , vol.12 , pp. 112-116
    • Prchal, J.T.1
  • 17
    • 0036191941 scopus 로고    scopus 로고
    • Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera
    • Kralovics R., Guan Y., and Prchal J.T. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematology 30 (2002) 229-236
    • (2002) Exp Hematology , vol.30 , pp. 229-236
    • Kralovics, R.1    Guan, Y.2    Prchal, J.T.3
  • 18
    • 0016391236 scopus 로고
    • Letter: bone-marrow responses in polycythemia vera
    • Prchal J.F., and Axelrad A.A. Letter: bone-marrow responses in polycythemia vera. N Engl J Med 290 (1974) 1382
    • (1974) N Engl J Med , vol.290 , pp. 1382
    • Prchal, J.F.1    Axelrad, A.A.2
  • 19
    • 0028146159 scopus 로고
    • Anti-erythropoietin (EPO) receptor monoclonal antibodies distinguish EPO-dependent and EPO-independent erythroid progenitors in polycythemia vera
    • Fisher M.J., Prchal J.F., Prchal J.T., and D'Andrea A.D. Anti-erythropoietin (EPO) receptor monoclonal antibodies distinguish EPO-dependent and EPO-independent erythroid progenitors in polycythemia vera. Blood 84 (1994) 1982-1991
    • (1994) Blood , vol.84 , pp. 1982-1991
    • Fisher, M.J.1    Prchal, J.F.2    Prchal, J.T.3    D'Andrea, A.D.4
  • 20
    • 0842309105 scopus 로고    scopus 로고
    • Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera
    • Ugo V., et al. Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera. Exp Hematology 32 (2004) 179-187
    • (2004) Exp Hematology , vol.32 , pp. 179-187
    • Ugo, V.1
  • 21
    • 0034012330 scopus 로고    scopus 로고
    • Regulation of the Jak2 tyrosine kinase by its pseudokinase domain
    • Saharinen P., Takaluoma K., and Silvennoinen O. Regulation of the Jak2 tyrosine kinase by its pseudokinase domain. Mol Cell Biol 20 (2000) 3387-3395
    • (2000) Mol Cell Biol , vol.20 , pp. 3387-3395
    • Saharinen, P.1    Takaluoma, K.2    Silvennoinen, O.3
  • 22
    • 0031017533 scopus 로고    scopus 로고
    • Mutation in the Jak kinase JH2 domain hyperactivates Drosophila and mammalian Jak-Stat pathways
    • Luo H., et al. Mutation in the Jak kinase JH2 domain hyperactivates Drosophila and mammalian Jak-Stat pathways. Mol Cell Biol 17 (1997) 1562-1571
    • (1997) Mol Cell Biol , vol.17 , pp. 1562-1571
    • Luo, H.1
  • 23
    • 0034614490 scopus 로고    scopus 로고
    • Signaling - 2000 and beyond
    • Hunter T. Signaling - 2000 and beyond. Cell 100 (2000) 113-127
    • (2000) Cell , vol.100 , pp. 113-127
    • Hunter, T.1
  • 24
    • 0035902180 scopus 로고    scopus 로고
    • Oncogenic kinase signaling
    • Blume-Jensen P., and Hunter T. Oncogenic kinase signaling. Nature 411 (2001) 355-365
    • (2001) Nature , vol.411 , pp. 355-365
    • Blume-Jensen, P.1    Hunter, T.2
  • 25
    • 0030962275 scopus 로고    scopus 로고
    • Polycythemia vera V, Enhanced proliferation and phosphorylation due to vanadate are diminished in polycythemia vera erythroid progenitor cells: a possible defect of phosphatase activity in polycythemia vera
    • Dai C.H., Krantz S.B., and Sawyer S.T. Polycythemia vera V, Enhanced proliferation and phosphorylation due to vanadate are diminished in polycythemia vera erythroid progenitor cells: a possible defect of phosphatase activity in polycythemia vera. Blood 89 (1997) 3574-3581
    • (1997) Blood , vol.89 , pp. 3574-3581
    • Dai, C.H.1    Krantz, S.B.2    Sawyer, S.T.3
  • 26
    • 0344737696 scopus 로고    scopus 로고
    • PTP-MEG2 is activated in polycythemia vera erythroid progenitor cells and is required for growth and expansion of erythroid cells
    • Xu M.J., Sui X., Zhao R., et al. PTP-MEG2 is activated in polycythemia vera erythroid progenitor cells and is required for growth and expansion of erythroid cells. Blood 102 (2003) 4354-4360
    • (2003) Blood , vol.102 , pp. 4354-4360
    • Xu, M.J.1    Sui, X.2    Zhao, R.3
  • 27
    • 0038771965 scopus 로고    scopus 로고
    • The "Shp"ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
    • Neel B.G., Gu H., and Pao L. The "Shp"ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci 28 (2003) 284-293
    • (2003) Trends Biochem Sci , vol.28 , pp. 284-293
    • Neel, B.G.1    Gu, H.2    Pao, L.3
  • 28
    • 0027195626 scopus 로고
    • Motheaten and viable motheaten mice have mutations in the hematopoietic cell phosphatase gene
    • Tsui H.W., Siminovitch K.A., Souza L., and Tsui F.W.L. Motheaten and viable motheaten mice have mutations in the hematopoietic cell phosphatase gene. Nat Genet 4 (1993) 124-129
    • (1993) Nat Genet , vol.4 , pp. 124-129
    • Tsui, H.W.1    Siminovitch, K.A.2    Souza, L.3    Tsui, F.W.L.4
  • 29
    • 0027197067 scopus 로고
    • Mutations at the murine motheaten locus are within the hematopoietic cell protein tyrosine phosphatase (HCPH) gene
    • Shultz L.D., Schweitzer P.A., Rajan T.V., et al. Mutations at the murine motheaten locus are within the hematopoietic cell protein tyrosine phosphatase (HCPH) gene. Cell 73 (1993) 1445-1454
    • (1993) Cell , vol.73 , pp. 1445-1454
    • Shultz, L.D.1    Schweitzer, P.A.2    Rajan, T.V.3
  • 30
    • 0032800467 scopus 로고    scopus 로고
    • Molecular basis for polycythemia
    • Prchal J.F., and Prchal J.T. Molecular basis for polycythemia. Curr Opin Hematol 6 (1999) 100-109
    • (1999) Curr Opin Hematol , vol.6 , pp. 100-109
    • Prchal, J.F.1    Prchal, J.T.2
  • 31
    • 0028956353 scopus 로고
    • Specific recruitment if SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals
    • Klingmuller U., Lorenz U., Cantley L.C., et al. Specific recruitment if SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals. Cell 80 (1995) 729-738
    • (1995) Cell , vol.80 , pp. 729-738
    • Klingmuller, U.1    Lorenz, U.2    Cantley, L.C.3
  • 32
    • 0030937302 scopus 로고    scopus 로고
    • The gene encoding hematopoietic cell phosphatase (SHP-1) is structurally and transcriptionally intact in polycythemia vera
    • Asimakopoulos F.A., Hinshelwood S., Gilbert J.G., et al. The gene encoding hematopoietic cell phosphatase (SHP-1) is structurally and transcriptionally intact in polycythemia vera. Oncogene 14 (1997) 1215-1222
    • (1997) Oncogene , vol.14 , pp. 1215-1222
    • Asimakopoulos, F.A.1    Hinshelwood, S.2    Gilbert, J.G.3
  • 33
    • 9844245132 scopus 로고    scopus 로고
    • No evidence for an altered mRNA expression or protein level of hematopoietic cell phosphatase in CD34+ bone marrow progenitor cells or mature peripheral blood cells in polycythemia vera
    • Anderson P., LeBlanc K., Eriksson B.-A., and Samuelson J. No evidence for an altered mRNA expression or protein level of hematopoietic cell phosphatase in CD34+ bone marrow progenitor cells or mature peripheral blood cells in polycythemia vera. Eur J Haematol 59 (1997) 310-317
    • (1997) Eur J Haematol , vol.59 , pp. 310-317
    • Anderson, P.1    LeBlanc, K.2    Eriksson, B.-A.3    Samuelson, J.4
  • 34
    • 0033019186 scopus 로고    scopus 로고
    • Defective expression of the SHP-1 phosphatase in polycythemia vera
    • Wickrema A., Chen F., Namin F., et al. Defective expression of the SHP-1 phosphatase in polycythemia vera. Exp Hematol 27 (1999) 1124-1132
    • (1999) Exp Hematol , vol.27 , pp. 1124-1132
    • Wickrema, A.1    Chen, F.2    Namin, F.3
  • 35
    • 0033604644 scopus 로고    scopus 로고
    • SHP-2 tyrosine phosphatase: signaling one cell or many
    • Feng G.S. SHP-2 tyrosine phosphatase: signaling one cell or many. Exp Cell Res 253 (1999) 47-54
    • (1999) Exp Cell Res , vol.253 , pp. 47-54
    • Feng, G.S.1
  • 36
    • 0038278866 scopus 로고    scopus 로고
    • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes, and acute myeloid leukemia
    • Tartaglia M., Niemeyer C.M., Fragale A., et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes, and acute myeloid leukemia. Nat Genet 34 (2003) 148-150
    • (2003) Nat Genet , vol.34 , pp. 148-150
    • Tartaglia, M.1    Niemeyer, C.M.2    Fragale, A.3
  • 37
    • 12144286410 scopus 로고    scopus 로고
    • Mutations in PTPN11 implicate the SHP-2 phosphatse in leukemogenesis
    • Loh M.L., Vattikuti S., Schubbert S., et al. Mutations in PTPN11 implicate the SHP-2 phosphatse in leukemogenesis. Blood 103 (2004) 2325-2331
    • (2004) Blood , vol.103 , pp. 2325-2331
    • Loh, M.L.1    Vattikuti, S.2    Schubbert, S.3
  • 38
    • 3142620903 scopus 로고    scopus 로고
    • Genetic evidence for lineage and differentiation stage related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
    • Tartaglia M., Martinelli S., Cazzaniga G., et al. Genetic evidence for lineage and differentiation stage related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood 104 (2004) 307-313
    • (2004) Blood , vol.104 , pp. 307-313
    • Tartaglia, M.1    Martinelli, S.2    Cazzaniga, G.3
  • 39
    • 10844290923 scopus 로고    scopus 로고
    • Activating mutations of the Noonan syndrome associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia
    • Bentires-Alj M., Paez J.G., David F.S., et al. Activating mutations of the Noonan syndrome associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res 64 (2004) 8816-8820
    • (2004) Cancer Res , vol.64 , pp. 8816-8820
    • Bentires-Alj, M.1    Paez, J.G.2    David, F.S.3
  • 40
    • 0033520389 scopus 로고    scopus 로고
    • SOCS3 is essential in the regulation of fetal liver erythropoiesis
    • Marine J.C., McKay C., Wang D., et al. SOCS3 is essential in the regulation of fetal liver erythropoiesis. Cell 98 (1999) 617-627
    • (1999) Cell , vol.98 , pp. 617-627
    • Marine, J.C.1    McKay, C.2    Wang, D.3
  • 41
    • 0034703097 scopus 로고    scopus 로고
    • CIS3/SOCS-3 suppresses erythropoietin (Epo) signaling by binding the EPO receptor and JAK2
    • Sasaki A., Yasukawa H., Souda T., et al. CIS3/SOCS-3 suppresses erythropoietin (Epo) signaling by binding the EPO receptor and JAK2. J Biol Chem 275 (2000) 29338-29347
    • (2000) J Biol Chem , vol.275 , pp. 29338-29347
    • Sasaki, A.1    Yasukawa, H.2    Souda, T.3
  • 42
    • 0033828672 scopus 로고    scopus 로고
    • SOCS: physiological suppressors of cytokine signaling
    • Krebs D., and Hilton D.J. SOCS: physiological suppressors of cytokine signaling. J Cell Sci 113 (2000) 2813-2819
    • (2000) J Cell Sci , vol.113 , pp. 2813-2819
    • Krebs, D.1    Hilton, D.J.2
  • 43
    • 85117737517 scopus 로고    scopus 로고
    • Steensma DP, Dewald GW, Lasho T, et al. Brief report: the JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both 'atypical' myeloproliferative disorders and the myelodysplastic syndrome. Blood 2005; 106: 1207-1212.
  • 44
    • 85117737984 scopus 로고    scopus 로고
    • Jelinek J, Oki Y, Gharibyan V, et al. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia-chromosome negative CML, and megakaryocytic leukemia. Blood 2005; 106: 3370-3373.


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