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Muendlein, A.* ; Gasser, K.* ; Kinz, E.* ; Stark, N.* ; Leiherer, A.* ; Rein, P.* ; Saely, C.H.* ; Grallert, H. ; Peters, A. ; Drexel, H.* ; Lang, A.H.*

Evaluation of the prevalence and prospective clinical impact of the JAK2 V617F mutation in coronary patients.

Am. J. Hematol. 89, 295-301 (2014)
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The JAK2 V617F mutation is found in the majority of patients with myeloproliferative neoplasms (MPN), including essential thrombocythemia (ET), but also has been reported in individuals without overt MPN. A close relation of the JAK2 V617F mutation to atherothrombotic events has been described, at least in patients with MPN. The prevalence of the JAK2 V617F mutation and its clinical impact in coronary patients is unknown. To address this issue, DNA samples from 1,589 subjects undergoing coronary angiography with up to 11 years of follow up were genotyped using allele-specific real-time PCR assays. Prevalence of the JAK2 V617F mutation was 1.32% (n=21) in coronary patients. Two JAK2 V617F positive patients showed baseline platelet counts indicative for ET and a third patient developed ET during follow up, finally resulting in a percentage of 0.188% of ET cases. This corresponds to an up to 5-fold accumulation of ET cases in coronary patients compared to the general population. Our study showed no impact of the JAK2 V617F mutation on future atherothrombotic events or overall survival (HR=1.04 [0.33-3.27]; p=0.949 and HR=0.35 [0.05-2.46]; p=0.288, respectively). Therefore, our data suggest that JAK2 V617F positive coronary patients are not at increased risk for future atherothrombotic complications. Routine mutation screening in coronary patients is, therefore, not warranted. However, number of ET cases appears to be accumulated in coronary patients. For this reason, we recommend JAK2 V617F testing only in coronary patients showing abnormal blood cell counts for further clarification.
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Publication type Article: Journal article
Document type Scientific Article
Keywords JAK2 V617F mutation; Myeloproliferative neoplasms coronary patients; atherothrombotic events; coronary angiography; Cerebral Venous Thrombosis; World-health-organization; Jak2(v617f) Allele Burden; Tyrosine Kinase Jak2; Essential Thrombocythemia; Polycythemia-vera; Myeloproliferative Disorders; Jak2v617f Mutation; V617f Mutation; Disease
Language english
Publication Year 2014
Prepublished in Year 2013
HGF-reported in Year 2013
ISSN (print) / ISBN 0361-8609
e-ISSN 1096-8652
Journal American Journal of Hematology
Quellenangaben Volume: 89, Issue: 3, Pages: 295-301 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Hoboken
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Experimental Genetics (IEG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30201 - Metabolic Health
30202 - Environmental Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504000-005
G-521500-002
G-504000-006
PubMed ID 24265174
DOI 10.1002/ajh.23632
WOS ID WOS:000331941600010
Scopus ID 84896721964
Erfassungsdatum 2013-11-25
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