The JAK2 exon 12 mutations: A comprehensive review

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...

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Bibliographic Details
Published in:American journal of hematology 2011-08, Vol.86 (8), p.668-676
Main Author: Scott, Linda M.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Biological and medical sciences
Diagnosis, Differential
Erythropoiesis
Exons
Hematologic and hematopoietic diseases
Hematology
Humans
Janus Kinase 2 - chemistry
Janus Kinase 2 - genetics
Medical sciences
Models, Molecular
Molecular Sequence Data
Mutation
Polycythemia Vera - diagnosis
Polycythemia Vera - genetics
Polycythemia Vera - physiopathology
Protein Structure, Tertiary
Sequence Alignment
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Summary: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.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.22063