ETV6-Related Predisposition to Leukemia and Thrombocytopenia

**Semantic type:** Finding

**Definition:** An autosomal dominant condition caused by mutation(s) in the ETV6 gene, encoding transcription factor ETV6. It is characterized by an increased risk of developing thrombocytopenia and diverse hematologic malignancies, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma.

**Synonyms:** - ETV6-Related Thrombocytopenia and Leukemia Predisposition