A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

Keita Kirito; Kumi Sakoe; Daisuke Shinoda; Yoshihisa Takiyama; Kenneth Kaushansky; Norio Komatsu

doi:10.3324/haematol.12050

A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

Keita Kirito
, Kumi Sakoe
, Daisuke Shinoda
, Yoshihisa Takiyama
, Kenneth Kaushansky
, Norio Komatsu^*

^*Corresponding author for this work

University of Yamanashi
Jichi Medical University
University of California at San Diego

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

33 Scopus citations

Abstract

We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.

Original language	English
Pages (from-to)	155-156
Number of pages	2
Journal	Haematologica
Volume	93
Issue number	1
DOIs	https://doi.org/10.3324/haematol.12050
State	Published - 01 2008
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Acute myeloid leukemia
FPD/MM
RUNX1

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10.3324/haematol.12050

Cite this

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title = "A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies",

abstract = "We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.",

keywords = "Acute myeloid leukemia, FPD/MM, RUNX1",

author = "Keita Kirito and Kumi Sakoe and Daisuke Shinoda and Yoshihisa Takiyama and Kenneth Kaushansky and Norio Komatsu",

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doi = "10.3324/haematol.12050",

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AU - Kirito, Keita

AU - Sakoe, Kumi

AU - Shinoda, Daisuke

AU - Takiyama, Yoshihisa

AU - Kaushansky, Kenneth

AU - Komatsu, Norio

PY - 2008/1

Y1 - 2008/1

N2 - We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.

AB - We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.

KW - Acute myeloid leukemia

KW - FPD/MM

KW - RUNX1

UR - https://www.scopus.com/pages/publications/38549140634

U2 - 10.3324/haematol.12050

DO - 10.3324/haematol.12050

M3 - 文章

C2 - 18166807

AN - SCOPUS:38549140634

SN - 0390-6078

VL - 93

SP - 155

EP - 156

JO - Haematologica

JF - Haematologica

IS - 1

ER -

A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

Abstract

UN SDGs

Keywords

Access to Document

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