C-terminal RUNX1 mutation in familial platelet disorder with
predisposition to myeloid malignancies

J 2018

C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies

STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Michaela PEŠOVÁ, Kamila RÉBLOVÁ, Jakub TRIZULJAK et. al.

Základní údaje

Originální název

C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies

Autoři

STAŇO KOZUBÍK, Kateřina (203 Česká republika, domácí), Lenka RADOVÁ (203 Česká republika, domácí), Michaela PEŠOVÁ (203 Česká republika, domácí), Kamila RÉBLOVÁ (203 Česká republika, domácí), Jakub TRIZULJAK (703 Slovensko, domácí), Karla PLEVOVÁ (203 Česká republika, domácí), Veronika FIAMOLI (203 Česká republika, domácí), J. GUMULEC (203 Česká republika), H. URBANKOVA (203 Česká republika), T. SZOTKOWSKI (203 Česká republika), Jiří MAYER (203 Česká republika, domácí), Šárka POSPÍŠILOVÁ (203 Česká republika, domácí) a Michael DOUBEK (203 Česká republika, garant, domácí)

Vydání

International journal of hematology, Tokyo, Springer Japan KK, 2018, 0925-5710

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Japonsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.251

Kód RIV

RIV/00216224:14740/18:00106950

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1007/s12185-018-2514-3

UT WoS

000449944200014

Klíčová slova anglicky

Familial platelet disorder with predisposition to myeloid malignancies; Inherited thrombocytopenia; RUNX1

Štítky

14110212, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 13. 3. 2019 13:09, Mgr. Pavla Foltynová, Ph.D.

Anotace

V originále

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.

Návaznosti

NV16-29447A, projekt VaV

Název: Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním

Citovat

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.

@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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