Table 1:

Genetic predisposition to MDS/AML

Gene	Syndrome	Hematologic malignancies	Other hematologic manifestations	Nonhematologic manifestations
CEBPA	Familial AML with mutated CEBPA	–	–	–
DDX1	Familial AML with mutated DDX41	MDS, CMML	–	–
RUNX1	Familial platelet disorder with propensity to myeloid malignancies	MDS, T-ALL	Thrombocytopenia, bleeding propensity	Eczema
ANKRD26	Thrombocytopenia 2	MDS	Thrombocytopenia, bleeding propensity	–
ETV6	Thrombocytopenia 5	MDS, CMML, B-ALL, PCM	Thrombocytopenia	Possible Risk for solid tumors
GATA2	Familial MDS/AML with mutated GATA2	MDS, CMML	MonoMAC syndrome	Lymphedema, hearing loss, extragenital warts
SRP72	SRP72-associated familial aplasia and myelodysplasia	MDS	Aplastic anemia	Deafness
SAMD9	MIRAGE syndrome	MDS		Infections, intrauterine growth restrictions, adrenal hypoplasia, enteropathy
SAMD9L	Ataxia-pancytopenia syndrome	MDS	Pancytopenia	Neurological deficits