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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 (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 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 Pardanani, A. D Articles by Tefferi, A. Search for Related Content PubMed PubMed Citation Articles by Pardanani, A. D Articles by Tefferi, A. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted April 24, 2006 Accepted June 11, 2006 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 G Gilliland, and Ayalew Tefferi* Divisions of Hematology, Mayo Clinic, Rochester, MN, USA Dana-Farber Cancer Institute; Brigham and Women's Hospital Harvard, Boston, MA, USA Brigham and Women's Hospital Harvard Medical School, Boston, MA, USA Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA Hematopathology, Mayo Clinic, Rochester, MN, USA * Corresponding author; email: tefferi.ayalew{at}mayo.edu. Recently, a gain-of-function MPL mutation, MPLW515L, was described in JAK2V617F-negative myelofibrosis with myeloid metaplasia (MMM). In order to gain more information on mutational frequency, disease specificity, and clinical correlates, genomic DNA from 1182 patients with myeloproliferative and other myeloid disorders as well as 64 normal 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 cases 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 ~5% and 1% respectively, but are not observed in patients with 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?

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