ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial

Table 2

Characteristics of AML/MDS predisposition syndromes.

Disease	Clinical characteristics	Mutated gene	Pattern of inheritance	Penetrance
Familial AML with mutated CEBPA	AML	CEBPA	AD	≈100%
Myeloid neoplasm with germline DDX41 mutation	MDS/AML	DDX41	AD	Unknown
Familial platelet disorder/AML	MDS/AML/T cell ALL, lifelong thrombocytopenia, bleeding propensity	RUNX1	AD	40%
Thrombocytopenia and predisposition to myeloid malignancies	Thrombocytopenia, platelet dysfunction, MDS/AML	ANKRD26	AD	Unknown
Myeloid neoplasm with germline ETV6 mutation	Thrombocytopenia, platelet dysfunction, MDS/AML	ETV6	AD	≈100%
Familial MDS/AML with mutated GATA2	MDS/AML, MonoMAC syndrome, Emberger syndrome	GATA2	AD	70%
Telomere biology disorders	MDS/AML, macrocytosis, mild to moderate single or multiple cytopenias, aplastic anemia	TERT, TERC	AD	Variable
Bone marrow failure associated with SRP72 mutations	Aplastic anemia, MDS	SRP72	AD	Unknown

AML = acute myeloid leukemia; MDS = myelodisplastic syndrome; AD = autosomic dominant.