Human Pathology
Volume 41, Issue 5 , Pages 758-762 , May 2010

JAK2 V617F mutation is uncommon in patients with the 3q21q26 syndrome

Received 23 April 2009 ,Revised 2 November 2009 ,Accepted 4 November 2009.

References 

  1. Jotterand Bellomo M, Parlier V, Muhlematter D, Grob JP, Beris P. Three new cases of chromosome 3 rearrangement in bands q21 and q26 with abnormal thrombopoiesis bring further evidence to the existence of a 3q21q26 syndrome. Cancer Genet Cytogenet. 1992;59:138–160
  2. Boissinot M, Garand R, Hamidou M, Hermouet S. The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood. 2006;108:1781–1782
  3. Hellstrom-Lindberg E, Cazzola M. The role of JAK2 mutations in RARS and other MDS. Hematology Am Soc Hematol Educ Program. 2008;2008:52–59
  4. Ingram W, Lea NC, Cervera J, et al. The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow. Leukemia. 2006;20:1319–1321
  5. Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22:1813–1817
  6. Mohamedali A, Mufti GJ. Van-den Berghe's 5q− syndrome in 2008. Br J Haematol. 2009;144:157–168
  7. Schmitt-Graeff AH, Teo SS, Olschewski M, et al. JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica. 2008;93:34–40
  8. Steensma DP, Dewald GW, Lasho TL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both “atypical” myeloproliferative disorders and myelodysplastic syndromes. Blood. 2005;106:1207–1209
  9. Szpurka H, Tiu R, Murugesan G, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood. 2006;108:2173–2181
  10. Guerini V, Barbui V, Spinelli O, et al. The histone deacetylase inhibitor ITF2357 selectively targets cells bearing mutated JAK2(V617F). Leukemia. 2008;22:740–747
  11. Yin CC, Medeiros LJ, Glassman AB, Lin P. t(8;21)(q22;q22) in blast phase of chronic myelogenous leukemia. Am J Clin Pathol. 2004;121:836–842
  12. ISCN . International system for human cytogenetic nomenclature. Basel, Swizerland: S. Karger; 2005;
  13. Cho-Vega JH, Troncoso P, Do KA, et al. Combined laser capture microdissection and serial analysis of gene expression from human tissue samples. Mod Pathol. 2005;18:577–584
  14. Lin P, Chen L, Luthra R, et al. Acute myeloid leukemia harboring t(8;21)(q22;q22): a heterogeneous disease with poor outcome in a subset of patients unrelated to secondary cytogenetic aberrations. Mod Pathol. 2008;21:1029–1036
  15. Martinelli G, Ottaviani E, Buonamici S, et al. Association of 3q21q26 syndrome with different RPN1/EVI1 fusion transcripts. Haematologica. 2003;88:1221–1228
  16. Bouscary D, Fontenay-Roupie M, Chretien S, et al. Thrombopoietin is not responsible for the thrombocytosis observed in patients with acute myeloid leukemias and the 3q21q26 syndrome. Br J Haematol. 1995;91:425–427
  17. Suzukawa K, Satoh H, Taniwaki M, Yokota J, Morishita K. The human thrombopoietin gene is located on chromosome 3q26.33-q27, but is not transcriptionally activated in leukemia cells with 3q21 and 3q26 abnormalities (3q21q26 syndrome). Leukemia. 1995;9:1328–1331
  18. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162–2168
  19. Sotlar K, Bache A, Stellmacher F, Bultmann B, Valent P, Horny HP. Systemic mastocytosis associated with chronic idiopathic myelofibrosis: a distinct subtype of systemic mastocytosis associated with a [corrected] clonal hematological non–mast [corrected] cell lineage disorder carrying the activating point mutations KITD816V and JAK2V617F. J Mol Diagn. 2008;10:58–66

PII: S0046-8177(09)00407-9

doi: 10.1016/j.humpath.2009.11.004

Human Pathology
Volume 41, Issue 5 , Pages 758-762 , May 2010

Article Tools

* Image Usage & Resolution