Table 1

Myelodysplastic syndrome with genetic predisposition.

Syndrome	Pathogenesis	Inheritance	Known genes	Non-hematologic findings	Screening test	Risk of MDS/AML
Familial platelet disorder with predisposition to myeloid malignancy	Transcription regulation	AD	RUNX1	None	RUNX1 sequencing	35%
ANKRD26-related thrombocytopenia	MAPK signaling	AD	ANKRD26	None	ANKRD26 sequencing	8%
GATA2haploinsufficiency	Transcription regulation	AD	GATA2	MonoMac syndrome (Monocytopenia, non-tuberculous mycobacterial and viral infections), Emgerger syndrome (lymphedema and monosomy 7), cutaneous warts, deafness	GATA2 sequencing; bone marrow morphology and flow cytometry	50%
DDX41-associated familial MDS/AML syndrome	DEAD/H-box helicase	AD	DDX41	Long latency; presentation in >40 years old adults with high risk MDS and AML	DDX41 sequencing	Unknown
SRP72-associated MDS	SRP72 transcription factor	AD	SRP72	Congenital nerve deafness	SRP72 sequencing	Unknown
ETV6-associated familial thrombocytopenia and hematologic malignancy	ETV6 transcription factor	AD	ETV6	Thrombocytopenia, bleeding, macrocytosis, possible association with myopathy, GERD, esophageal stricture, reading disability	ETV6 sequencing	Unknown

Abbreviations: AD, autosomal dominant; AML, acute myeloid leukemia; GERD, gastroesophageal reflux disease; MDS, myelodysplastic syndrome.