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

Kateřina Staňo Kozubík; Lenka Radová; Michaela Pešová; Kamila Réblová; Jakub Trizuljak; Karla Plevová; Veronika Fiamoli; Jaromír Gumulec; Helena Urbánková; Tomáš Szotkowski; Jiří Mayer; Šárka Pospíšilová; Michael Doubek

doi:10.1007/s12185-018-2514-3

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

Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Kamila Réblová, Jakub Trizuljak, Karla Plevová, Veronika Fiamoli, Jaromír Gumulec, Helena Urbánková, Tomáš Szotkowski, Jiří Mayer, Šárka Pospíšilová, Michael Doubek^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

8 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	652-657
Number of pages	6
Journal	International Journal of Hematology
Volume	108
Issue number	6
DOIs	https://doi.org/10.1007/s12185-018-2514-3
Publication status	Published - 1 Dec 2018
Externally published	Yes

Keywords

Familial platelet disorder with predisposition to myeloid malignancies
Inherited thrombocytopenia
RUNX1

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10.1007/s12185-018-2514-3

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Staňo Kozubík, K., Radová, L., Pešová, M., Réblová, K., Trizuljak, J., Plevová, K., Fiamoli, V., Gumulec, J., Urbánková, H., Szotkowski, T., Mayer, J., Pospíšilová, Š., & Doubek, M. (2018). C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. International Journal of Hematology, 108(6), 652-657. https://doi.org/10.1007/s12185-018-2514-3

@article{9c9dcb7e7d1d4bbc9e22e882ab012f7f,

title = "C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies",

abstract = "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.",

keywords = "Familial platelet disorder with predisposition to myeloid malignancies, Inherited thrombocytopenia, RUNX1",

author = "{Sta{\v n}o Kozub{\'i}k}, Kate{\v r}ina and Lenka Radov{\'a} and Michaela Pe{\v s}ov{\'a} and Kamila R{\'e}blov{\'a} and Jakub Trizuljak and Karla Plevov{\'a} and Veronika Fiamoli and Jarom{\'i}r Gumulec and Helena Urb{\'a}nkov{\'a} and Tom{\'a}{\v s} Szotkowski and Ji{\v r}{\'i} Mayer and {\v S}{\'a}rka Posp{\'i}{\v s}ilov{\'a} and Michael Doubek",

note = "Publisher Copyright: {\textcopyright} 2018, The Japanese Society of Hematology.",

year = "2018",

month = dec,

day = "1",

doi = "10.1007/s12185-018-2514-3",

language = "English",

volume = "108",

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journal = "International Journal of Hematology",

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Staňo Kozubík, K, Radová, L, Pešová, M, Réblová, K, Trizuljak, J, Plevová, K, Fiamoli, V, Gumulec, J, Urbánková, H, Szotkowski, T, Mayer, J, Pospíšilová, Š & Doubek, M 2018, 'C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies', International Journal of Hematology, vol. 108, no. 6, pp. 652-657. https://doi.org/10.1007/s12185-018-2514-3

TY - JOUR

T1 - C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies

AU - Staňo Kozubík, Kateřina

AU - Radová, Lenka

AU - Pešová, Michaela

AU - Réblová, Kamila

AU - Trizuljak, Jakub

AU - Plevová, Karla

AU - Fiamoli, Veronika

AU - Gumulec, Jaromír

AU - Urbánková, Helena

AU - Szotkowski, Tomáš

AU - Mayer, Jiří

AU - Pospíšilová, Šárka

AU - Doubek, Michael

PY - 2018/12/1

Y1 - 2018/12/1

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.

AB - 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.

KW - Familial platelet disorder with predisposition to myeloid malignancies

KW - Inherited thrombocytopenia

KW - RUNX1

UR - http://www.scopus.com/inward/record.url?scp=85051223967&partnerID=8YFLogxK

U2 - 10.1007/s12185-018-2514-3

DO - 10.1007/s12185-018-2514-3

M3 - Article

C2 - 30083851

AN - SCOPUS:85051223967

SN - 0925-5710

VL - 108

SP - 652

EP - 657

JO - International Journal of Hematology

JF - International Journal of Hematology

IS - 6

ER -

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

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Keywords

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