| STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Kamila RÉBLOVÁ, Michal ŠMÍDA, Marketa KUBRICANOVA ZALIOVA, Jiří BALOUN, Michaela PEŠOVÁ, Zuzana VRZALOVÁ, František FOLBER, Soňa MEJSTŘÍKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia. Platelets. PHILADELPHIA: TAYLOR & FRANCIS INC, 2021, vol. 32, No 6, p. 838-841. ISSN 0953-7104. Available from: https://dx.doi.org/10.1080/09537104.2020.1802416. |
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@article{1765766,
author = {Staňo Kozubík, Kateřina and Radová, Lenka and Réblová, Kamila and Šmída, Michal and Kubricanova Zaliova, Marketa and Baloun, Jiří and Pešová, Michaela and Vrzalová, Zuzana and Folber, František and Mejstříková, Soňa and Pospíšilová, Šárka and Doubek, Michael},
article_location = {PHILADELPHIA},
article_number = {6},
doi = {http://dx.doi.org/10.1080/09537104.2020.1802416},
keywords = {Acute lymphoblastic leukemia; ETV6; myeloproliferative neoplasm; second hit},
language = {eng},
issn = {0953-7104},
journal = {Platelets},
title = {Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia},
url = {https://www.tandfonline.com/doi/full/10.1080/09537104.2020.1802416},
volume = {32},
year = {2021}
}
TY - JOUR
ID - 1765766
AU - Staňo Kozubík, Kateřina - Radová, Lenka - Réblová, Kamila - Šmída, Michal - Kubricanova Zaliova, Marketa - Baloun, Jiří - Pešová, Michaela - Vrzalová, Zuzana - Folber, František - Mejstříková, Soňa - Pospíšilová, Šárka - Doubek, Michael
PY - 2021
TI - Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia
JF - Platelets
VL - 32
IS - 6
SP - 838-841
EP - 838-841
PB - TAYLOR & FRANCIS INC
SN - 09537104
KW - Acute lymphoblastic leukemia
KW - ETV6
KW - myeloproliferative neoplasm
KW - second hit
UR - https://www.tandfonline.com/doi/full/10.1080/09537104.2020.1802416
N2 - Germline mutations inETV6gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation ofETV6W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute lymphoblastic leukemia (ALL) or essential thrombocythemia (ET).In-silicoanalysis predicted impaired DNA binding due to W380R mutation. Functional analysis showed that this mutation prevents the ETV6 protein from localizing into the cell nucleus and impairs the transcriptional repression activity of ETV6. Based on the germlineETV6mutation, ET probably started with somaticJAK2V617F mutation, whereas ALL could be caused by diverse mechanisms: high-hyperdiploidity; somatic deletion of exon 1IKZF1gene; or somatic mutations of other genes found by exome sequencing of the ALL sample taken at the diagnosis.
ER -
STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Kamila RÉBLOVÁ, Michal ŠMÍDA, Marketa KUBRICANOVA ZALIOVA, Jiří BALOUN, Michaela PEŠOVÁ, Zuzana VRZALOVÁ, František FOLBER, Soňa MEJSTŘÍKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia. \textit{Platelets}. PHILADELPHIA: TAYLOR \&{} FRANCIS INC, 2021, vol.~32, No~6, p.~838-841. ISSN~0953-7104. Available from: https://dx.doi.org/10.1080/09537104.2020.1802416.
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