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 a Michael DOUBEK. C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. International journal of hematology. Tokyo: Springer Japan KK, 2018, roč. 108, č. 6, s. 652-657. ISSN 0925-5710. Dostupné z: 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 a 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, roč.~108, č.~6, s.~652-657. ISSN~0925-5710. Dostupné z: https://dx.doi.org/10.1007/s12185-018-2514-3.
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