What is the role of genetics in the etiology of acute myeloid leukemia (AML)?

Updated: May 26, 2020
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Germline mutations in the gene AML1 (RUNX1, CBFA2) occur in the familial platelet disorder with predisposition for AML, an autosomal dominant disorder characterized by moderate thrombocytopenia, a defect in platelet function, and propensity to develop AML. [6] Mutation of CEBPA (the gene encoding CCAAT/enhancer binding protein alpha, a granulocytic differentiation factor and member of the bZIP family) was described in a family with 3 members affected by AML. [7]

Holme et al studied 27 families with familial MDS/AML. All of the families were screened for RUNX1, CEBPA, TERC, TERT, GATA2, TET2, and NPM1 mutations. Five of the 27 families had telomerase mutations (3 TERT, 2 TERC), one had a RUNX1 mutation, and four had heterozygous GATA2 mutations. [8]

Gao et al reviewed GATA2 mutations associated with familial AML-MDS. [9] GATA2 is a transcription factor crucial for hematopoietic differentiation and lymphatic formation. Germline GATA2 mutations are involved in a rare group of complex syndromes with overlapping clinical features of immune deficiency, lymphedema, and propensity to AML or MDS.

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