Journal of the Chinese Medical Association
Volume 70, Issue 3 , Pages 89-93 , March 2007

Pathogenetic Role of JAK2 V617F Mutation in Chronic Myeloproliferative Disorders

  • Hui-Chi Hsu

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr Hui-Chi Hsu, Division of Hematology and Oncology, Department of Medicine, Taipei Veterans General Hospital, 201, Section 2, Shih-Pai Road, Taipei 112, Taiwan, R.O.C.

Received 31 August 2006 ,Accepted 15 December 2006.

References 

  1. Dameshek W . Some speculations on the myeloproliferative syndromes . Blood . 1951;6:372–375
  2. Vardiman JW , Harris NL , Brunning RD . The World Health Organization (WHO) classification of the myeloid neoplasms . Blood . 2002;100:2292–2302
  3. Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R, et al. In: Chronic myeloproliferative disorders . Hematology: American Society of Hematology Education Program Book; 2003;p. 200–224
  4. Van Etten RA , Shannon KM . Focus on myeloproliferative diseases and myelodysplastic syndromes . Cancer Cell . 2004;6:547–552
  5. Dai CH , Krantz SB , Dessypris EN , Means RT , Horn ST , Gilbert HS . Polycythemia vera, II: hypersensitivity of bone marrow erythroid, granulocyte-macrophage, and megakaryocyte progenitor cells to interleukin-3 and granulocyte-macrophage colony-stimulating factor . Blood . 1992;80:891–899
  6. Dai CH , Krantz SB , Koury ST , Kollar K . Polycythaemia vera, IV: specific binding of stem cell factor to normal and polycythaemia vera highly purified erythroid progenitor cells . Br J Haematol . 1994;88:497–505
  7. Correa PN , Eskinazi D , Axelrad AA . Circulating erythroid progenitors in polycythemia vera are hypersensitive to insulin-like growth factor-1 in vitro: studies in an improved serum-free medium . Blood . 1994;83:99–112
  8. Axelrad AA , Eskinazi D , Correa PN , Amato D . Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombo-cythemia . Blood . 2000;96:3310–3321
  9. Saharinen P , Vihinen M , Silvennoinen O . Autoinhibition of JAK2 tyrosine kinase is dependent on specific regions in its pseudokinase domain . Mol Biol Cell . 2003;14:1448–1459
  10. Ugo V, Marzac C, Teyssandier I, Larbret F, Lecluse Y, Debili N, et al  Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera . Exp Hematol . 2004;32:179–187
  11. Rawlings JS , Rosler KM , Harrison DA . The JAK/STAT signaling pathway . J Cell Sci . 2004;117:1281–1283
  12. James C, Ugo V, LeCouedic JP, Staerk J, Delhommeau F, Lacout C, et al  A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera . Nature . 2005;434:1144–1148
  13. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al  A gain-of-function mutation of JAK2 in myeloproliferative disorders . N Engl J Med . 2005;352:1779–1790
  14. Levine RL, Wadleigh M, Cools J, Ebert B, Wernig G, Huntly BJ, et al  Activating mutation of the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis . Cancer Cell . 2005;7:387–397
  15. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al  Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative diseases . Lancet . 2005;365:1054–1061
  16. Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz SB, et al. Identification of an acquired JAK2 mutation in polycythemia vera . J Biol Chem . 2005;280:22788–22792
  17. Hsu HC, Wu HS, Hon YC, Wang CC, Yang CF, Chen PM, et al. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in Taiwanese patients with myeloproliferative disorders . Haematologica . 2006;91(Suppl):457
  18. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al  Widespread occurrence of the JAK2 V617 mutation in chronic myeloproliferative disorders . Blood . 2005;106:2162–2168
  19. Levine RL, Loriaux M, Huntly BJ, Loh ML, Beran M, Stoffregen E, et al  The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia . Blood . 2005;106:3377–3379
  20. Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S, 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
  21. Campbell PJ , Scott LM , Baxter EJ , Bench AJ , Green AR , Erber WN . Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders . Methods Mol Med . 2006;125:253–264
  22. Jamieson CH, Gotlib J, Durocher JA, Chao MP, Mariappan MR, Lay M, et al  The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation . Proc Natl Acad Sci USA . 2006;103:6224–6229
  23. 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;20:1181–1183
  24. Lasho TL , Mesa R , Gilliland DG , Tefferi A . Mutation studies in CD3+, CD19+ and CD34+ cell fractions in myeloproliferative disorders with homozygous JAK2(V617F) in granulocytes . Br J Haematol . 2005;130:797–799
  25. Goerttler PS, Steimle C, Marz E, Johansson PL, Andreasson B, Griesshammer M, et al  The JAK2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients . Blood . 2005;106:2862–2864
  26. Kralovics R, Teo SS, Buser AS, Brutsche M, Tiedt R, Tichelli A, et al  Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of JAK2 . Blood . 2005;106:3374–3376
  27. Silva M , Richard C , Benito A , Sanz C , Olalla I , Fernandez-Luna JL . Expression of Bcl-x in erythroid precursors from patients with polycythemia vera . N Engl J Med . 1998;338:564–571
  28. Temerinac S, Klippel S, Strunck E, Roder S, Lubbert M, Lange W, et al  Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is overexpressed in poly-cythemia rubra vera . Blood . 2000;95:2569–2576
  29. Goerttler PS, Kreutz C, Donauer J, Faller D, Maiwald T, Marz E, et al  Gene expression profiling in poly-cythaemia vera: overexpression of transcription factor NF-E2 . Br J Haematol . 2005;129:138–150
  30. Moliterno AR , Hankins WD , Spivak JL . Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera . N Engl J Med . 1998;338:572–580
  31. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, et al  Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study . Lancet . 2005;366:1945–1953
  32. 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;117:755–761
  33. Marchioli R, Finazzi G, Landolfi R, Kutti J, Gisslinger H, Patrono C, et al  Vascular and neoplastic risk in a large cohort of patients with polycythemia vera . J Clin Oncol . 2005;23:2224–2232
  34. Zaleskas VM, Krause DS, Lazarides K, Patel N, Hu Y, Li S, et al. Molecular pathogenesis of polycythemia induced in mice by JAK V617F . Blood . 2005;106:116; [Abstract]
  35. Levine RL, Belisle C, Wadleigh M, Zahrieh D, Lee S, Chagnon P, et al  X-inactivation based clonality analysis and quantitative JAK2V617F assessment reveals a strong association between clonality and JAK2V617F in PV but not in ET/MMM, and identifies a subset of JAK2V617F negative ET and MMM patients with clonal hematopoiesis . Blood . 2006;107:4139–4141
  36. Campbell PJ , Green AR . In: Management of polycythemia vera and essential thrombocythemia . Hematology: American Society of Hematology Education Program Book; 2005;p. 201–208
  37. Tefferi A , Pardanani A . Mutation screening for JAK2(V617F): when to order the test and how to interpret the results . Leukemia Res . 2006;30:739–744
  38. James C, Delhommeau F, Marzac C, Teyssandier I, Couedic JP, Giraudier S, et al  Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis . Leukemia . 2006;20:350–353

PII: S1726-4901(09)70337-5

doi: 10.1016/S1726-4901(09)70337-5

Journal of the Chinese Medical Association
Volume 70, Issue 3 , Pages 89-93 , March 2007

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