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Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations

Passamonti, Francesco and Elena, Chiara and Schnittger, Susanne and Skoda, Radek C. and Green, Anthony R. and Girodon, François and Kiladjian, Jean-Jacques and McMullin, Mary Frances and Ruggeri, Marco and Besses, Carles and Vannucchi, Alessandro M. and Lippert, Eric and Gisslinger, Heinz and Rumi, Elisa and Lehmann, Thomas and Ortmann, Christina A. and Pietra, Daniela and Pascutto, Cristiana and Haferlach, Torsten and Cazzola, Mario. (2011) Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood, Vol. 117, H. 10. pp. 2813-2816.

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Official URL: http://edoc.unibas.ch/dok/A6004835

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Abstract

Although approximately 95% of patients with polycythemia vera (PV) harbor the V617F mutation in JAK2 exon 14, several mutations in exon 12 have been described in the remaining patients. We conducted a European collaborative study to define the molecular and clinical features of patients harboring these mutations. Overall, 106 PVs were recruited and 17 different mutations identified. Irrespective of the mutation, two-thirds of patients had isolated erythrocytosis, whereas the remaining subjects had erythrocytosis plus leukocytosis and/or thrombocytosis. Compared with JAK2 (V617F)-positive PV patients, those with exon 12 mutations had significantly higher hemoglobin level and lower platelet and leukocyte counts at diagnosis but similar incidences of thrombosis, myelofibrosis, leukemia, and death. In a multivariable analysis, age more than 60 years and prior thrombosis predicted thrombosis. These findings suggest that, despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PV is similar to that of JAK2 (V617F)-positive PV.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Experimental Hematology (Skoda)
03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Hämatologie > Molekulare Medizin (Skoda)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Hämatologie > Molekulare Medizin (Skoda)
UniBasel Contributors:Skoda, Radek C.
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:American Society of Hematology
ISSN:1528-0020
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:08 May 2015 08:45
Deposited On:27 Feb 2014 15:45

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