Hematologic Neoplasm with Germline ETV6 Mutation

**Semantic type:** Neoplastic Process

**Definition:** Autosomal dominant familial thrombocytopenia associated with germline ETV6 mutation and hematologic malignancies. The hematologic malignancies reported are diverse, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma. Non-hematological neoplasms, including colorectal adenocarcinoma, have been also reported in affected families. (WHO 2017)