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

Research output: Contribution to journalJournal 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 languageEnglish
Pages (from-to)155-156
Number of pages2
JournalHaematologica
Volume93
Issue number1
DOIs
StatePublished - 01 2008
Externally publishedYes

Keywords

  • Acute myeloid leukemia
  • FPD/MM
  • RUNX1

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