Myeloid neoplasms with germ line RUNX1 mutation

Yoshihiro Hayashi, Yuka Harada, Gang Huang, Hironori Harada

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Familial platelet disorder with propensity to myeloid malignancies (FPD/AML) is an autosomal dominant disorder characterized by quantitative and/or qualitative platelet defects with a tendency to develop a variety of hematological malignancies. Heterozygous germ line mutations in the RUNX1 gene are responsible genetic events for FPD/AML. Notably, about half of individuals in the family with germ line mutations in RUNX1 develop overt hematological malignancies. The latency is also relatively long as an average age at diagnosis is more than 30 years. Similar to what is observed in sporadic hematological malignancies, acquired additional genetic events cooperate with inherited RUNX1 mutations to progress the overt malignant phase. Reflecting recent increased awareness of hematological malignancies with germ line mutations, FPD/AML was added in the revised WHO 2016 classification. In this review, we provide an update on FPD/AML with recent clinical and experimental findings.

Original languageEnglish (US)
Pages (from-to)183-188
Number of pages6
JournalInternational journal of hematology
Issue number2
StatePublished - Aug 1 2017
Externally publishedYes


  • FPD/MM
  • Germ line mutation
  • RUNX1

ASJC Scopus subject areas

  • Hematology


Dive into the research topics of 'Myeloid neoplasms with germ line RUNX1 mutation'. Together they form a unique fingerprint.

Cite this