Coexistence of gain-of-function JAK2 germ line mutations with JAK2(V617F) in polycythemia vera

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F16%3A00472059" target="_blank" >RIV/68378050:_____/16:00472059 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/16:10338403 RIV/61989592:15110/16:33162132 RIV/00216224:14110/16:00100472
Result on the web
<a href="http://dx.doi.org/10.1182/blood-2016-07-725861" target="_blank" >http://dx.doi.org/10.1182/blood-2016-07-725861</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1182/blood-2016-07-725861" target="_blank" >10.1182/blood-2016-07-725861</a>

Result language
angličtina
Original language name
Coexistence of gain-of-function JAK2 germ line mutations with JAK2(V617F) in polycythemia vera
Original language description
We described the association of gain-of-function germline JAK2 mutations (T108A, L393V) coexisting with JAK2V617F in subjects with polycythemia vera phenotype. Both JAK2 germline mutations showed in vitro hypersensitivity to erythropoietin in BaF/3-EPOR cells and weak activation of JAK2/STAT signaling. It is suggestive, that JAK2 germline mutations may provide clonal advantage and increase the probability of acquiring JAK2V617F lesion during the evolution of polycythemia vera phenotype and may contribute to further genomic alterations in polycythemia vera clone and eventually fatal leukemic transformation.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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