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Blood, 15 November 2006, Vol. 108, No. 10, pp. 3472-3476. Prepublished online as a Blood First Edition Paper on July 25, 2006; DOI 10.1182/blood-2006-04-018879. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-04-018879v1 108/10/3472    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 Pardanani, A. D. Articles by Tefferi, A. Search for Related Content PubMed PubMed Citation Articles by Pardanani, A. D. Articles by Tefferi, A. Related Collections Neoplasia Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients Animesh D. Pardanani, Ross L. Levine, Terra Lasho, Yana Pikman, Ruben A. Mesa, Martha Wadleigh, David P. Steensma, Michelle A. Elliott, Alexandra P. Wolanskyj, William J. Hogan, Rebecca F. McClure, Mark R. Litzow, D. Gary Gilliland, and Ayalew Tefferi From the Divisions of Hematology and Hematopathology, Mayo Clinic, Rochester, MN; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA; Brigham and Women's Hospital, Harvard Medical School, Boston, MA; and the Howard Hughes Medical Institute, Harvard Medical School, Boston, MA. Recently, a gain-of-function MPL mutation, MPLW515L, was described in patients with JAK2V617F-negative myelofibrosis with myeloid metaplasia (MMM). To gain more information on mutational frequency, disease specificity, and clinical correlates, genomic DNA from 1182 patients with myeloproliferative and other myeloid disorders and 64 healthy controls was screened for MPL515 mutations, regardless of JAK2V617F mutational status: 290 with MMM, 242 with polycythemia vera, 318 with essential thrombocythemia (ET), 88 with myelodysplastic syndrome, 118 with chronic myelomonocytic leukemia, and 126 with acute myeloid leukemia (AML). MPL515 mutations, either MPLW515L (n = 17) or a previously undescribed MPLW515K (n = 5), were detected in 20 patients. The diagnosis of patients with mutant MPL alleles at the time of molecular testing was de novo MMM in 12 patients, ET in 4, post-ET MMM in 1, and MMM in blast crisis in 3. Six patients carried the MPLW515L and JAK2V617F alleles concurrently. We conclude that MPLW515L or MPLW515K mutations are present in patients with MMM or ET at a frequency of approximately 5% and 1%, respectively, but are not observed in patients with polycythemia vera (PV) or other myeloid disorders. Furthermore, MPL mutations may occur concurrently with the JAK2V617F mutation, suggesting that these alleles may have functional complementation in myeloproliferative disease. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: X. Wang, W. Zhang, T. Ishii, S. Sozer, J. Wang, M. Xu, and R. Hoffman Correction of the Abnormal Trafficking of Primary Myelofibrosis CD34+ Cells by Treatment with Chromatin-Modifying Agents Cancer Res., October 1, 2009; 69(19): 7612 - 7618. [Abstract] [Full Text] [PDF] K. Liu, M. Martini, B. Rocca, C. I. Amos, L. Teofili, F. Giona, J. Ding, H. Komatsu, L. M. Larocca, and R. C. 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