Familial myelodysplastic syndrome (MDS) and AML syndromes
Familial platelet disorder with a propensity to develop AML (associated with germline RUNX1 mutations).
Familial MDS and AML syndromes with germline GATA2 mutations.
Familial MDS and AML syndromes with germline CEBPA mutations.
Telomere biology disorders due to a mutation in TERC or TERT (i.e., occult dyskeratosis congenita).
Nonsyndromic genetic susceptibility to AML is also being studied. For example, homozygosity for a specific IKZF1 polymorphism has been associated with an increased risk of infant AML.
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May 28, 2015
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