Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10296005" target="_blank" >RIV/00216208:11130/15:10296005 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/15:10296005
Result on the web
<a href="http://dx.doi.org/10.1007/s12185-015-1759-3" target="_blank" >http://dx.doi.org/10.1007/s12185-015-1759-3</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s12185-015-1759-3" target="_blank" >10.1007/s12185-015-1759-3</a>

Result language
angličtina
Original language name
Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias
Original language description
We report, for the first time, a non-syndromic infant with a reversible myeloproliferative disease that harbors a germline hereditary thrombopoietin (THPO) gene mutation, a condition that is known to induce familial thrombocytosis at increasing age. In order to investigate whether somatic THPO gene mutations play a role in sporadic pediatric myeloproliferative diseases, we performed a mutation screening of a large representative cohort of pediatric acute myeloid leukemia, myeloid leukemia of Down syndrome, and juvenile myelomonocytic leukemia samples and show that gain-of-function THPO mutations are extremely rare in sporadic pediatric myeloproliferative diseases.
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
FD - Oncology and haematology
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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