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Blood, 1 February 2008, Vol. 111, No. 3, pp. 1686-1689. Prepublished online as a Blood First Edition Paper on November 5, 2007November 6, 2007; DOI 10.1182/blood-2007-07-101576. This Article Full Text (PDF) Supplemental Methods, Table, and Figures All Versions of this Article: blood-2007-07-101576v1 blood-2007-07-101576v2 111/3/1686    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 HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Pietra, D. Articles by Cazzola, M. Search for Related Content PubMed PubMed Citation Articles by Pietra, D. Articles by Cazzola, M. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted July 17, 2007 Accepted October 28, 2007 Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders Daniela Pietra, Sai Li, Angela Brisci, Francesco Passamonti, Elisa Rumi, Alexandre Theocharides, Maurizio Ferrari, Heinz Gisslinger, Robert Kralovics, Laura Cremonesi, Radek Skoda, and Mario Cazzola* Department of Hematology, Fondazione IRCCS Policlinico San Matteo & University of Pavia, Pavia, Italy Department of Research, Experimental Hematology, Basel University Hospital, Basel, Switzerland Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy UniversitaVita-Salute San Raffaele, Milan, Italy Department of Internal Medicine I, Division of Hematology & Blood Coagulation, Medical University of Vienna, Vienna, Austria Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria Diagnostica e Ricerca San Raffaele SpA, Milan, Italy * Corresponding author; email: mario.cazzola{at}unipv.it. We searched for JAK2 exon 12 mutations in patients with JAK2 (V617F)-negative myeloproliferative disorders. Seventeen patients with polycythemia vera (PV), including 15 sporadic cases and 2 familial cases, carried deletions or duplications of exon 12 in circulating granulocytes but not in T-lymphocytes. Two of the 8 mutations detected were novel, and the most frequent ones were N542-E543del and E543-D544del. Most patients with PV carrying an exon 12 mutations had isolated erythrocytosis at clinical onset, unlike patients with JAK2 (V617F)-positive PV, most of whom had also elevations in white blood cell and/or platelet counts. Both patients with familial PV carrying an exon 12 mutation had an affected sibling with JAK2 (V617F)-positive PV. Thus, several somatic mutations of JAK2 exon 12 can be found in a myeloproliferative disorder that is mainly characterized by erythrocytosis. Moreover, a genetic predisposition to acquisition of different JAK2 mutations is inherited in families with myeloproliferative disorders. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. Malcovati, M. G. Della Porta, D. Pietra, E. Boveri, A. Pellagatti, A. Galli, E. Travaglino, A. Brisci, E. Rumi, F. Passamonti, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis Blood, October 22, 2009; 114(17): 3538 - 3545. [Abstract] [Full Text] [PDF] L. Zhao, H. Dong, C. C. Zhang, L. Kinch, M. Osawa, M. Iacovino, N. V. Grishin, M. Kyba, and L. J.-s. Huang A JAK2 Interdomain Linker Relays Epo Receptor Engagement Signals to Kinase Activation J. Biol. Chem., September 25, 2009; 284(39): 26988 - 26998. [Abstract] [Full Text] [PDF] J. H. Ohyashiki, H. Hisatomi, S. Shimizu, M. Sugaya, and K. 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