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The JAK2 exon 12 mutations: A comprehensive review
Author(s) -
Scott Linda M.
Publication year - 2011
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.22063
Subject(s) - exon , erythropoietin , polycythemia vera , mutation , erythropoiesis , phenotype , myeloproliferative neoplasm , biology , hematocrit , genetics , cancer research , hematology , medicine , anemia , myelofibrosis , gene , bone marrow
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 . Am. J. Hematol. 2011. © 2011 Wiley‐Liss, Inc.