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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 (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 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 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 Related Letter in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted February 23, 2006 Accepted May 24, 2006 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* Taussig Cancer Center, The Cleveland Clinic Foundation Taussig Cancer Center and Internal Medicine, The Cleveland Clinic Foundation Clinical Pathology, The Cleveland Clinic Foundation * Corresponding author; email: maciejj{at}ccf.org. JAK2 V617F mutation was recently 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 PCR, sequencing, and Melting Curve Analysis. The detection rate of JAK2 V617F mutants for PV, CIMF, and ET (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 (9/35). 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 sideroblast 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 only 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]

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