JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms

Anna Siemiatkowska; Maria Bieniaszewska; Andrzej Hellmann; Janusz Limon

doi:10.1016/j.leukres.2009.06.017

JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms

Leuk Res. 2010 Mar;34(3):387-9. doi: 10.1016/j.leukres.2009.06.017. Epub 2009 Jul 29.

Authors

Anna Siemiatkowska¹, Maria Bieniaszewska, Andrzej Hellmann, Janusz Limon

Affiliation

¹ Department of Biology and Genetics, Medical University of Gdańsk, Debinki 1, 80-210 Gdańsk, Poland.

PMID: 19643476
DOI: 10.1016/j.leukres.2009.06.017

Abstract

We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders. Our results confirm that routine JAK2 analysis should include exon 12 mutations in polycythemia vera patients. MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Female
Genetic Predisposition to Disease*
Humans
Janus Kinase 2 / genetics*
Male
Middle Aged
Mutation
Myeloproliferative Disorders / genetics*
Receptors, Thrombopoietin / genetics*

Substances

Receptors, Thrombopoietin
MPL protein, human
JAK2 protein, human
Janus Kinase 2