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Am J Hematol. 2011 Aug;86(8):668-76. doi: 10.1002/ajh.22063. Epub 2011 Jun 14.

The JAK2 exon 12 mutations: a comprehensive review.

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Greehey Children's Cancer Research Institute, University of Texas Health Sciences Center at San Antonio, San Antonio, Texas 78229, USA.


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.

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