Document Detail

The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms.
MedLine Citation:
PMID:  18538168     Owner:  NLM     Status:  MEDLINE    
JAK2 is a tyrosine kinase involved in cytokine signaling. The JAK2V617F point mutation, first described in 2005, results in constitutive activation of JAK2 and is now widely used as a diagnostic marker for Philadelphia chromosome negative myeloproliferative neoplasms. In recent years, more novel JAK2 mutations and fusion genes have been discovered in myeloproliferative neoplasms and other hematologic malignancies. This review aims to summarize the discovery and use of the JAK2V617F point mutation, other novel JAK2 mutations, and JAK2 translocations in diagnosing myeloproliferative neoplasms, acute myeloid leukemia, and acute lymphoid leukemia. JAK2 mutation testing is addressed, including the sensitivity and specificity of the different JAK2 mutation testing methods, clinical indications for use, and the use of quantitative JAK2 mutation testing for routine pathologic diagnosis, prognosis, and monitoring response to therapy. The relationship of JAK2 mutation to endogenous erythroid colony formation, thrombopoietin receptor mutation, polycythemia rubra vera-1 overexpression, and thrombopoietin receptor underexpression in myeloproliferative neoplasms are explored. Also discussed are the JAK2 inhibitors for clinical trials. Finally, the advantages of the newly proposed World Health Organization classification for myeloproliferative neoplasms are reviewed.
Cristina A Smith; Guang Fan
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Human pathology     Volume:  39     ISSN:  1532-8392     ISO Abbreviation:  Hum. Pathol.     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-06-09     Completed Date:  2008-07-01     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  9421547     Medline TA:  Hum Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  795-810     Citation Subset:  IM    
Department of Pathology, Oregon Health and Science University, Portland, OR 97239, USA.
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MeSH Terms
DNA Mutational Analysis
Janus Kinase 2 / antagonists & inhibitors,  genetics*
Leukemia, Myeloid, Acute / classification,  diagnosis,  genetics*
Myeloproliferative Disorders / classification,  diagnosis,  genetics*
Point Mutation*
Precursor Cell Lymphoblastic Leukemia-Lymphoma / classification,  diagnosis,  genetics*
Translocation, Genetic / genetics*
World Health Organization
Reg. No./Substance:
EC Kinase 2; EC protein, human

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