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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.
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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.
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