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.

Basic information

Original name

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

Authors

STAŇO KOZUBÍK, Kateřina (203 Czech Republic, belonging to the institution), Lenka RADOVÁ (203 Czech Republic, belonging to the institution), Michaela PEŠOVÁ (203 Czech Republic, belonging to the institution), Kamila RÉBLOVÁ (203 Czech Republic, belonging to the institution), Jakub TRIZULJAK (703 Slovakia, belonging to the institution), Karla PLEVOVÁ (203 Czech Republic, belonging to the institution), Veronika FIAMOLI (203 Czech Republic, belonging to the institution), J. GUMULEC (203 Czech Republic), H. URBANKOVA (203 Czech Republic), T. SZOTKOWSKI (203 Czech Republic), Jiří MAYER (203 Czech Republic, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, belonging to the institution) and Michael DOUBEK (203 Czech Republic, guarantor, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30205 Hematology

Country of publisher

Japan

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.251

RIV identification code

RIV/00216224:14740/18:00106950

Organization unit

Central European Institute of Technology

DOI

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

UT WoS

000449944200014

Keywords in English

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

Abstract

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.

Links

NV16-29447A, research and development project

Name: 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 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.

@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.

Detailed Information on Publication Record