The JAK2 exon 12 mutations: A comprehensive review
- 14 June 2011
- journal article
- review article
- Published by Wiley in American Journal of Hematology
- Vol. 86 (8), 668-676
- https://doi.org/10.1002/ajh.22063
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. Am. J. Hematol. 2011.This publication has 96 references indexed in Scilit:
- JAK inhibitor therapy for myelofibrosis: critical assessment of value and limitationsLeukemia, 2010
- Safety and Efficacy of INCB018424, a JAK1 and JAK2 Inhibitor, in MyelofibrosisThe New England Journal of Medicine, 2010
- AT9283, a potent inhibitor of the Aurora kinases and Jak2, has therapeutic potential in myeloproliferative disordersBritish Journal of Haematology, 2010
- Lestaurtinib (CEP701) is a JAK2 inhibitor that suppresses JAK2/STAT5 signaling and the proliferation of primary erythroid cells from patients with myeloproliferative disordersBlood, 2008
- TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutationsLeukemia, 2007
- JAK2Exon 12 Mutations in Polycythemia Vera and Idiopathic ErythrocytosisThe New England Journal of Medicine, 2007
- Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosisCancer Cell, 2005
- A Gain-of-Function Mutation ofJAK2in Myeloproliferative DisordersThe New England Journal of Medicine, 2005
- A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia veraNature, 2005
- Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disordersThe Lancet, 2005