| STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Michaela PEŠOVÁ, Kamila RÉBLOVÁ, Jakub TRIZULJAK, Karla PLEVOVÁ, Veronika FIAMOLI, J. GUMULEC, H. URBANKOVA, T. SZOTKOWSKI, Jiří MAYER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. International journal of hematology. Tokyo: Springer Japan KK, 2018, vol. 108, No 6, p. 652-657. ISSN 0925-5710. Available from: https://dx.doi.org/10.1007/s12185-018-2514-3. |
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@article{1474600,
author = {Staňo Kozubík, Kateřina and Radová, Lenka and Pešová, Michaela and Réblová, Kamila and Trizuljak, Jakub and Plevová, Karla and Fiamoli, Veronika and Gumulec, J. and Urbankova, H. and Szotkowski, T. and Mayer, Jiří and Pospíšilová, Šárka and Doubek, Michael},
article_location = {Tokyo},
article_number = {6},
doi = {http://dx.doi.org/10.1007/s12185-018-2514-3},
keywords = {Familial platelet disorder with predisposition to myeloid malignancies; Inherited thrombocytopenia; RUNX1},
language = {eng},
issn = {0925-5710},
journal = {International journal of hematology},
title = {C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies},
url = {https://link.springer.com/article/10.1007%2Fs12185-018-2514-3},
volume = {108},
year = {2018}
}
TY - JOUR
ID - 1474600
AU - Staňo Kozubík, Kateřina - Radová, Lenka - Pešová, Michaela - Réblová, Kamila - Trizuljak, Jakub - Plevová, Karla - Fiamoli, Veronika - Gumulec, J. - Urbankova, H. - Szotkowski, T. - Mayer, Jiří - Pospíšilová, Šárka - Doubek, Michael
PY - 2018
TI - C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies
JF - International journal of hematology
VL - 108
IS - 6
SP - 652-657
EP - 652-657
PB - Springer Japan KK
SN - 09255710
KW - Familial platelet disorder with predisposition to myeloid malignancies
KW - Inherited thrombocytopenia
KW - RUNX1
UR - https://link.springer.com/article/10.1007%2Fs12185-018-2514-3
N2 - Here we report a C-terminal RUNX1 mutation in a family with platelet disorder and predisposition to myeloid malignancies. We identified the mutation c.866delG:p.Gly289Aspfs*22 (NM_001754) (RUNX1 b-isoform NM_001001890; c.785delG:p.Gly262Aspfs*22) using exome sequencing of samples obtained from eight members of a single family. The mutation found in our pedigree is within exon eight and the transactivation domain of RUNX1. One of the affected individuals developed myelodysplastic syndrome (MDS), which progressed to acute myelogenous leukemia (AML). A search for the second hit which led to the development of MDS and later AML in this individual revealed the PHF6 gene variant (exon9:c.872G>A:p.G291E; NM_001015877), BCORL1 (exon3:c.1111A>C:p.T371P; NM_001184772) and BCOR gene variant (exon4:c.2076dupT:p.P693fs; NM_001123383), which appear to be very likely second hits participating in the progression to myeloid malignancy.
ER -
STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Michaela PEŠOVÁ, Kamila RÉBLOVÁ, Jakub TRIZULJAK, Karla PLEVOVÁ, Veronika FIAMOLI, J. GUMULEC, H. URBANKOVA, T. SZOTKOWSKI, Jiří MAYER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. \textit{International journal of hematology}. Tokyo: Springer Japan KK, 2018, vol.~108, No~6, p.~652-657. ISSN~0925-5710. Available from: https://dx.doi.org/10.1007/s12185-018-2514-3.
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