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

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Myeloproliferative Disorders
Polycythemia Vera
Exons
Mutation
Polycythemia
T-cells
Platelets
Genetic Predisposition to Disease
Platelet Count
Leukocyte Count
Granulocytes
Blood
Cells
Siblings
T-Lymphocytes

ASJC Scopus subject areas

  • Hematology

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Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. / Pietra, Daniela; Li, Sai; Brisci, Angela; Passamonti, Francesco; Rumi, Elisa; Theocharides, Alexandre; Ferrari, Maurizio; Gisslinger, Heinz; Kralovics, Robert; Cremonesi, Laura; Skoda, Radek; Cazzola, Mario.

In: Blood, Vol. 111, No. 3, 2008, p. 1686-1689.

Research output: Contribution to journalArticle

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, vol. 111, no. 3, pp. 1686-1689. https://doi.org/10.1182/blood-2007-07-101576
Pietra, Daniela ; Li, Sai ; Brisci, Angela ; Passamonti, Francesco ; Rumi, Elisa ; Theocharides, Alexandre ; Ferrari, Maurizio ; Gisslinger, Heinz ; Kralovics, Robert ; Cremonesi, Laura ; Skoda, Radek ; Cazzola, Mario. / Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. In: Blood. 2008 ; Vol. 111, No. 3. pp. 1686-1689.
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AU - Rumi, Elisa

AU - Theocharides, Alexandre

AU - Ferrari, Maurizio

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AU - Cremonesi, Laura

AU - Skoda, Radek

AU - Cazzola, Mario

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