Document Detail


Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders.
MedLine Citation:
PMID:  18336541     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in these disorders. However, its frequency has been rarely determined in Taiwanese patients.
METHODS: The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay.
RESULTS: The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases. The presence of the JAK2 mutation was associated with specific MPD disease subtypes (P = 0.007), longer disease duration (P = 0.005), splenomegaly (P = 0.019), a higher white blood cell count (P = 0.002) and a higher haemoglobin level (P = 0.036). However, the overall risk of thrombosis or bleeding was not affected by the presence of the JAK2 mutation (32 vs 17%; P = 0.22).
CONCLUSION: The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD.
Authors:
C-H Lieu; H-S Wu; Y-C Hon; W-H Tsai; C-F Yang; C-C Wang; Y-C Lin; C-H Shih; H-C Hsu
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-03-07
Journal Detail:
Title:  Internal medicine journal     Volume:  38     ISSN:  1445-5994     ISO Abbreviation:  Intern Med J     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-07-10     Completed Date:  2008-10-02     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  101092952     Medline TA:  Intern Med J     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  422-6     Citation Subset:  IM    
Affiliation:
Department of Biotechnology and Laboratory Science in Medicine, School of Biomedical Science and Engineering, National Yang-Ming University, Taiwan. hchsu@vghtpe.gov.tw
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MeSH Terms
Descriptor/Qualifier:
Aged
DNA / genetics*
Exons
Female
Genetic Predisposition to Disease
Humans
Immunoenzyme Techniques
Incidence
Janus Kinase 2 / genetics*
Male
Mutation*
Myeloproliferative Disorders / enzymology,  epidemiology,  genetics*
Polymerase Chain Reaction
Taiwan / epidemiology
Chemical
Reg. No./Substance:
9007-49-2/DNA; EC 2.7.10.1/Janus Kinase 2; EC 2.7.10.2/JAK2 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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