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, Mario Cazzola

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Abstract

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.

Original languageEnglish
Pages (from-to)1686-1689
Number of pages4
JournalBlood
Volume111
Issue number3
DOIs
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Hematology

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    Pietra, D., Li, S., Brisci, A., Passamonti, F., Rumi, E., Theocharides, A., Ferrari, M., Gisslinger, H., Kralovics, R., Cremonesi, L., Skoda, R., & Cazzola, M. (2008). Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood, 111(3), 1686-1689. https://doi.org/10.1182/blood-2007-07-101576