JAK2Mutations in Myeloproliferative Disorders
- 29 September 2005
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 353 (13) , 1416-1417
- https://doi.org/10.1056/nejmc051878
Abstract
An activating somatic mutation involving the JH2 pseudokinase domain of Janus kinase 2 (JAK2 [V617F]) has been associated with myeloproliferative disorders. The mutation is detectable in 65 percent1 to 97 percent2 of cases of polycythemia vera. Kralovics and colleagues (April 28 issue)1 report a significant association between homozygosity for the JAK2 (V617F) mutation, which occurred in approximately one quarter of the patients with polycythemia vera, and increased duration of disease in polycythemia vera, essential thrombocythemia, and myelofibrosis with myeloid metaplasia. A similar observation was made by others,3 raising the possibility that homozygosity for the mutant allele is a time-dependent clonal evolution.Keywords
This publication has 5 references indexed in Scilit:
- Mutation studies in CD3+, CD19+ and CD34+ cell fractions in myeloproliferative disorders with homozygous JAK2V617F in granulocytesBritish Journal of Haematology, 2005
- Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosisPublished by Elsevier ,2005
- A Gain-of-Function Mutation ofJAK2in Myeloproliferative DisordersNew England Journal of Medicine, 2005
- A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia veraNature, 2005
- The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRAHuman Molecular Genetics, 2002