SEARCH:   Advanced

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: J. L. Spivak and R. T. Silver The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal Blood, July 15, 2008; 112(2): 231 - 239. [Full Text] [PDF] A. M. Vannucchi and P. Guglielmelli Molecular pathophysiology of Philadelphia-negative myeloproliferative disorders: beyond JAK2 and MPL mutations Haematologica, July 1, 2008; 93(7): 972 - 976. [Full Text] [PDF] H. Bruchova, M. Merkerova, and J. T. Prchal Aberrant expression of microRNA in polycythemia vera Haematologica, July 1, 2008; 93(7): 1009 - 1016. [Abstract] [Full Text] [PDF] I. Borze, S. Mustjoki, E. Juvonen, and S. Knuutila Oligoarray comparative genomic hybridization in polycythemia vera and essential thrombocythemia Haematologica, July 1, 2008; 93(7): 1098 - 1100. [Full Text] [PDF] P. A. Beer, P. J. Campbell, L. M. Scott, A. J. Bench, W. N. Erber, D. Bareford, B. S. Wilkins, J. T. Reilly, H. C. Hasselbalch, R. Bowman, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort Blood, July 1, 2008; 112(1): 141 - 149. [Abstract] [Full Text] [PDF] E. O. Hexner, C. Serdikoff, M. Jan, C. R. Swider, C. Robinson, S. Yang, T. Angeles, S. G. Emerson, M. Carroll, B. Ruggeri, et al. Lestaurtinib (CEP701) is a JAK2 inhibitor that suppresses JAK2/STAT5 signaling and the proliferation of primary erythroid cells from patients with myeloproliferative disorders Blood, June 15, 2008; 111(12): 5663 - 5671. [Abstract] [Full Text] [PDF] J.-J. Kiladjian, F. Cervantes, F. W. G. Leebeek, C. Marzac, B. Cassinat, S. Chevret, D. Cazals-Hatem, A. Plessier, J.-C. Garcia-Pagan, S. D. Murad, et al. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases Blood, May 15, 2008; 111(10): 4922 - 4929. [Abstract] [Full Text] [PDF] M. Cazzola Molecular basis of thrombocytosis Haematologica, May 1, 2008; 93(5): 646 - 648. [Full Text] [PDF] K. Liu, R. Kralovics, Z. Rudzki, B. Grabowska, A. S. Buser, D. Olcaydu, H. Gisslinger, R. Tiedt, P. Frank, K. Okon, et al. A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family Haematologica, May 1, 2008; 93(5): 706 - 714. [Abstract] [Full Text] [PDF] R. L. Levine JAK2V617F: you can't have too much. Blood, April 15, 2008; 111(8): 3913 - 3913. [Full Text] [PDF] G. M. Bergamaschi, M. Primignani, G. Barosi, F. M. Fabris, L. Villani, R. Reati, A. Dell'Era, and P. M. Mannucci MPL and JAK2 exon 12 mutations in patients with the Budd-Chiari syndrome or extrahepatic portal vein obstruction Blood, April 15, 2008; 111(8): 4418 - 4418. [Full Text] [PDF] F. Martelli, B. Ghinassi, R. Lorenzini, A. M. Vannucchi, R. A. Rana, M. Nishikawa, S. Partamian, G. Migliaccio, and A. R. Migliaccio Thrombopoietin Inhibits Murine Mast Cell Differentiation Stem Cells, April 1, 2008; 26(4): 912 - 919. [Abstract] [Full Text] [PDF] O. Bock, J. Hoftmann, K. Theophile, K. Hussein, B. Wiese, J. Schlue, and H. Kreipe Bone Morphogenetic Proteins Are Overexpressed in the Bone Marrow of Primary Myelofibrosis and Are Apparently Induced by Fibrogenic Cytokines Am. J. Pathol., April 1, 2008; 172(4): 951 - 960. [Abstract] [Full Text] [PDF] S. Li, R. Kralovics, G. De Libero, A. Theocharides, H. Gisslinger, and R. C. Skoda Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations Blood, April 1, 2008; 111(7): 3863 - 3866. [Abstract] [Full Text] [PDF] L. Malcovati and M. Cazzola Myelodysplastic/myeloproliferative disorders Haematologica, January 1, 2008; 93(1): 4 - 6. [Full Text] [PDF] B. S. Wilkins, W. N. Erber, D. Bareford, G. Buck, K. Wheatley, C. L. East, B. Paul, C. N. Harrison, A. R. Green, and P. J. Campbell Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes Blood, January 1, 2008; 111(1): 60 - 70. [Abstract] [Full Text] [PDF] A. Pradhan, Q. T. Lambert, and G. W. Reuther Transformation of hematopoietic cells and activation of JAK2-V617F by IL-27R, a component of a heterodimeric type I cytokine receptor PNAS, November 20, 2007; 104(47): 18502 - 18507. [Abstract] [Full Text] [PDF] R. Chaligne, C. James, C. Tonetti, R. Besancenot, J. P. Le Couedic, F. Fava, F. Mazurier, I. Godin, K. Maloum, F. Larbret, et al. Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis Blood, November 15, 2007; 110(10): 3735 - 3743. [Abstract] [Full Text] [PDF] S. Gery, S. Gueller, K. Chumakova, N. Kawamata, L. Liu, and H. P. Koeffler Adaptor protein Lnk negatively regulates the mutant MPL, MPLW515L associated with myeloproliferative disorders Blood, November 1, 2007; 110(9): 3360 - 3364. [Abstract] [Full Text] [PDF] A. Pardanani, T. L. Lasho, C. Finke, R. A. Mesa, W. J. Hogan, R. P. Ketterling, D. G. Gilliland, and A. Tefferi Extending Jak2V617F and MplW515 Mutation Analysis to Single Hematopoietic Colonies and B and T Lymphocytes Stem Cells, September 1, 2007; 25(9): 2358 - 2362. [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] S. O. Ciurea, D. Merchant, N. Mahmud, T. Ishii, Y. Zhao, W. Hu, E. Bruno, G. Barosi, M. Xu, and R. Hoffman Pivotal contributions of megakaryocytes to the biology of idiopathic myelofibrosis Blood, August 1, 2007; 110(3): 986 - 993. [Abstract] [Full Text] [PDF] J. Shi, Y. Zhao, T. Ishii, W. Hu, S. Sozer, W. Zhang, E. Bruno, V. Lindgren, M. Xu, and R. Hoffman Effects of Chromatin-Modifying Agents on CD34+ Cells from Patients with Idiopathic Myelofibrosis Cancer Res., July 1, 2007; 67(13): 6417 - 6424. [Abstract] [Full Text] [PDF] O. Wagner-Ballon, D. F. Pisani, T. Gastinne, M. Tulliez, R. Chaligne, C. Lacout, F. Aurade, J.-L. Villeval, P. Gonin, W. Vainchenker, et al. Proteasome inhibitor bortezomib impairs both myelofibrosis and osteosclerosis induced by high thrombopoietin levels in mice Blood, July 1, 2007; 110(1): 345 - 353. [Abstract] [Full Text] [PDF] J. L. Abkowitz and J. Chen Studies of c-Mpl function distinguish the replication of hematopoietic stem cells from the expansion of differentiating clones Blood, June 15, 2007; 109(12): 5186 - 5190. [Abstract] [Full Text] [PDF] A. Tefferi Primary myelofibrosis and its paraneoplastic stromal effects Haematologica, May 1, 2007; 92(5): 577 - 579. [Full Text] [PDF] E. Zetterberg, A. M. Vannucchi, A. R. Migliaccio, W. Vainchenker, M. Tulliez, R. Dickie, H. Hasselbalch, R. Rogers, and J. Palmblad Pericyte coverage of abnormal blood vessels in myelofibrotic bone marrows Haematologica, May 1, 2007; 92(5): 597 - 604. [Abstract] [Full Text] [PDF] K. Hussein, O. Bock, A. Seegers, M. Flasshove, F. Henneke, G. Buesche, and H. H. Kreipe Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation Blood, May 1, 2007; 109(9): 4106 - 4107. [Full Text] [PDF] L. M. Scott, W. Tong, R. L. Levine, M. A. Scott, P. A. Beer, M. R. Stratton, P. A. Futreal, W. N. Erber, M. F. McMullin, C. N. Harrison, et al. JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis N. Engl. J. Med., February 1, 2007; 356(5): 459 - 468. [Abstract] [Full Text] [PDF] R. Skoda The Genetic Basis of Myeloproliferative Disorders Hematology, January 1, 2007; 2007(1): 1 - 10. [Abstract] [Full Text] [PDF] R. Hoffman and D. Rondelli Biology and Treatment of Primary Myelofibrosis Hematology, January 1, 2007; 2007(1): 346 - 354. [Abstract] [Full Text] [PDF] R. A. Mesa Navigating the Evolving Paradigms in the Diagnosis and Treatment of Myeloproliferative Disorders Hematology, January 1, 2007; 2007(1): 355 - 362. [Abstract] [Full Text] [PDF] A. M. Vannucchi and T. Barbui Thrombocytosis and Thrombosis Hematology, January 1, 2007; 2007(1): 363 - 370. [Abstract] [Full Text] [PDF] A. Pardanani JAK2V617F and phenotype: questions galore Blood, January 1, 2007; 109(1): 8 - 8. [Full Text] [PDF]

	Copyright © 2006 by American Society of Hematology         Online ISSN: 1528-0020