Familial Myelodysplasia and Acute Myeloid Leukaemia--A Review

Br J Haematol. 2008 Jan;140(2):123-32. doi: 10.1111/j.1365-2141.2007.06909.x.


Familial occurrence of myelodysplasia (MDS) and/or acute myeloid leukaemia (AML) is rare but can provide a useful resource for the investigation of predisposing mutations in these myeloid malignancies. To date, examination of families with MDS/AML has lead to the detection of two culprit genes, RUNX1 and CEBPA. Germline mutations in RUNX1 result in familial platelet disorder with propensity to myeloid malignancy and inherited mutations of CEBPA predispose to AML. Unfortunately, the genetic cause remains obscure in most other reported pedigrees. Further insight into the molecular mechanisms of familial MDS/AML will require awareness by clinicians of new patients with relevant family histories.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • CCAAT-Enhancer-Binding Proteins / genetics
  • Core Binding Factor Alpha 2 Subunit / genetics
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Myelodysplastic Syndromes / genetics*
  • Neoplastic Syndromes, Hereditary / genetics*
  • Pedigree


  • CCAAT-Enhancer-Binding Proteins
  • CEBPA protein, human
  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human