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Blood, 1 October 2006, Vol. 108, No. 7, pp. 2173-2181. Prepublished online as a Blood First Edition Paper on June 1, 2006; DOI 10.1182/blood-2006-02-005751. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-02-005751v1 108/7/2173    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Szpurka, H. Articles by Maciejewski, J. P. Search for Related Content PubMed PubMed Citation Articles by Szpurka, H. Articles by Maciejewski, J. P. Related Collections Oncogenes and Tumor Suppressors Clinical Trials and Observations Hematopoiesis and Stem Cells Hemostasis, Thrombosis, and Vascular Biology Neoplasia Related Letter in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation Hadrian Szpurka, Ramon Tiu, Gurunathan Murugesan, Samer Aboudola, Eric D. Hsi, Karl S. Theil, Mikkael A. Sekeres, and Jaroslaw P. Maciejewski From the Experimental Hematology and Hematopoiesis Section, Taussig Cancer Center, The Cleveland Clinic Foundation; Internal Medicine, The Cleveland Clinic Foundation; Clinical Pathology, The Cleveland Clinic Foundation; Hematology and Medical Oncology, Taussig Cancer Center, The Cleveland Clinic Foundation, OH. JAK2 V617F mutation recently was identified as a pathogenic factor in typical chronic myeloproliferative diseases (CMPD). Some forms of myelodysplastic syndromes (MDS) show a significant overlap with CMPD (classified as MDS/MPD), but the diagnostic assignment may be challenging. We studied blood or bone marrow from 270 patients with MDS, MDS/MPD, and CMPD for the presence of JAK2 V617F mutation using polymerase chain reaction, sequencing, and melting curve analysis. The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia (n = 103) was similar to the previously reported results. In typical forms of MDS (n = 89) JAK2 V617F mutation was very rare (n = 2). However, a higher prevalence of this mutation was found in patients with MDS/MPD-U (9 of 35). Within this group, most of the patients harboring JAK2 V617F mutation showed features consistent with the provisional MDS/MPD-U entity refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T). Among 9 RARS-T patients, 6 showed the presence of JAK2 V617F mutation, and in 1 patient without mutation, aberrant, positive phospho-STAT5 staining was seen that is typically present in association with JAK2 V617F mutation. In summary, we found that RARS-T reveals a high frequency of JAK2 V617F mutation and likely constitutes another JAK2 mutation-associated form of CMPD. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Letter in Blood Online: High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count > 600 x 109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable Norbert Gattermann, Johan Billiet, Ralf Kronenwett, Esther Zipperer, Ulrich Germing, Friedel Nollet, Arnold Criel, and Dominik Selleslag Blood 2007 109: 1334-1335. [Full Text] [PDF] This article has been cited by other articles: S. D. Nimer Myelodysplastic syndromes Blood, May 15, 2008; 111(10): 4841 - 4851. [Abstract] [Full Text] [PDF] D. P. Steensma and A. Tefferi JAK2 V617F and ringed sideroblasts: not necessarily RARS-T Blood, February 1, 2008; 111(3): 1748 - 1748. [Full Text] [PDF] L. Malcovati and M. Cazzola Myelodysplastic/myeloproliferative disorders Haematologica, January 1, 2008; 93(1): 4 - 6. [Full Text] [PDF] A. H. Schmitt-Graeff, S.-S. Teo, M. Olschewski, F. Schaub, S. Haxelmans, A. Kirn, P. Reinecke, U. Germing, and R. C. Skoda JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis Haematologica, January 1, 2008; 93(1): 34 - 40. [Abstract] [Full Text] [PDF] J. W. Vardiman Integration of Histology and Genetics in the Diagnosis and Classification of Myeloproliferative Neoplasms ASCO Educational Book, January 1, 2008; 2008(1): 339 - 345. [Abstract] [Full Text] [PDF] A. Tefferi, J. Thiele, A. Orazi, H. M. Kvasnicka, T. Barbui, C. A. Hanson, G. Barosi, S. Verstovsek, G. Birgegard, R. Mesa, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel Blood, August 15, 2007; 110(4): 1092 - 1097. [Abstract] [Full Text] [PDF] N. Gattermann, J. Billiet, R. Kronenwett, E. Zipperer, U. Germing, F. Nollet, A. Criel, and D. Selleslag High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count > 600 x 109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable Blood, February 1, 2007; 109(3): 1334 - 1335. [Full Text] [PDF]

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