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Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders

Pietra, Daniela and Li, Sai and Brisci, Angela and Passamonti, Francesco and Rumi, Elisa and Theocharides, Alexandre and Ferrari, Maurizio and Gisslinger, Heinz and Kralovics, Robert and Cremonesi, Laura and Skoda, Radek C. and Cazzola, Mario. (2008) Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood, 111 (3). pp. 1686-1689.

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Official URL: https://edoc.unibas.ch/63336/

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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.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Experimental Hematology (Skoda)
UniBasel Contributors:Skoda, Radek C.
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:American Society of Hematology
ISSN:0006-4971
e-ISSN:1528-0020
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:11 Aug 2020 12:08
Deposited On:11 Aug 2020 12:08

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