Myeloid neoplasms with germ line RUNX1 mutation

Int J Hematol. 2017 Aug;106(2):183-188. doi: 10.1007/s12185-017-2258-5. Epub 2017 May 22.


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.

Keywords: FPD/AML; FPD/MM; Germ line mutation; RUNX1.

Publication types

  • Review

MeSH terms

  • Blood Coagulation Disorders, Inherited / genetics*
  • Blood Platelet Disorders / genetics*
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Genes, Dominant / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Leukemia, Myeloid, Acute / genetics*


  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human

Supplementary concepts

  • Platelet Disorder, Familial, with Associated Myeloid Malignancy