Inherited predisposition to acute myeloid leukemia

Semin Hematol. 2014 Oct;51(4):306-21. doi: 10.1053/j.seminhematol.2014.08.001. Epub 2014 Aug 12.


Germline testing for familial predisposition to myeloid malignancies is becoming more common with the recognition of multiple familial syndromes. Currently, Clinical Laboratory Improvement Amendments-approved testing exists for the following: familial platelet disorder with propensity to acute myeloid leukemia, caused by mutations in RUNX1; familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2; familial acute myeloid leukemia with mutated CEBPA; and the inherited bone marrow failure syndromes, including dyskeratosis congenita, a disease of abnormal telomere maintenance. With the recognition of additional families with a genetic component to their myeloid diseases, new predisposition alleles are likely to be identified. Awareness of the existence of these syndromes will facilitate proper genetic counseling, appropriate testing, and clinical management of these cases.

MeSH terms

  • CCAAT-Enhancer-Binding Proteins / genetics
  • Core Binding Factor Alpha 2 Subunit / genetics
  • GATA2 Transcription Factor / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Mutation


  • CCAAT-Enhancer-Binding Proteins
  • CEBPA protein, human
  • Core Binding Factor Alpha 2 Subunit
  • GATA2 Transcription Factor
  • GATA2 protein, human
  • RUNX1 protein, human