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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 6, 2007; DOI 10.1182/blood-2007-07-101576.
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NEOPLASIA
Brief Report
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders
Daniela Pietra1,
Sai Li2,
Angela Brisci3,
Francesco Passamonti1,
Elisa Rumi1,
Alexandre Theocharides2,
Maurizio Ferrari35,
Heinz Gisslinger6,
Robert Kralovics6,7,
Laura Cremonesi3,4,
Radek Skoda2, and
Mario Cazzola1
1 Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo and University of Pavia, Pavia, Italy;
2 Department of Research, Experimental Hematology, Basel University Hospital, Basel, Switzerland;
3 Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy;
4 Diagnostica e Ricerca San Raffaele, Milan, Italy;
5 Università Vita-Salute San Raffaele, Milan, Italy;
6 Department of Internal Medicine I, Division of Hematology and Blood Coagulation, Medical University of Vienna, Vienna, Austria; and
7 Center for Molecular Medicine (CeMM), Austrian Academy of Sciences, Vienna, Austria
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 mutation 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.
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