The JAK2 exon 12 mutations: a comprehensive review

Scott, Linda M. (2011) The JAK2 exon 12 mutations: a comprehensive review. American Journal of Hematology, 86 8: 668-676. doi:10.1002/ajh.22063


Author Scott, Linda M.
Title The JAK2 exon 12 mutations: a comprehensive review
Formatted title
The JAK2 exon 12 mutations: a comprehensive review
Journal name American Journal of Hematology   Check publisher's open access policy
ISSN 0361-8609
1096-8652
Publication date 2011-08
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1002/ajh.22063
Open Access Status DOI
Volume 86
Issue 8
Start page 668
End page 676
Total pages 9
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
A variety of acquired mutations targeting JAK2 exon 12 are present in those patients with the myeloproliferative neoplasm, polycythemia vera, that lack the more common JAK2V617F mutation. Both mutation types perturb erythropoiesis, with individuals presenting with a raised hematocrit, reduced serum erythropoietin levels, and erythropoietin-independent erythroid progenitor cells. However, there are also phenotypic differences that, until recently, precluded a significant proportion of patients with a JAK2 exon 12 mutation from receiving an appropriate diagnosis. Here, we review the literature published on the JAK2 exon 12 mutations and compare the biology associated with these mutations with that of JAK2V617F.
Keyword Polycythemia vera patients
Chronic myeloid leukemia
Splanchnic vein thrombosis
Chronic myeloproliferative disorders
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: UQ Diamantina Institute Publications
 
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