5  ETV6

• Loss-of-function alterations in ETV6 [encoding a transcriptional repressor in the erythroblast transformation-specific (ETS) family important in megakaryopoiesis] are associated with familial thrombocytopenia that predispose to both lymphoid and myeloid neoplasms.

• These alterations demonstrate an autosomal dominant mode of inheritance with high penetrance

• The lifetime risk of developing hematologic malignancies is estimated to be 30%, with a wide age range (2–82 years of age)

• The most common malignancies include B-ALL, mixed-phenotype acute leukemia, and sometimes CMML, MDS, and AML.