Hematologic Neoplasm with Germline ETV6 Mutation - CISMeF
Hematologic Neoplasm with Germline ETV6 MutationNCIt concept
Preferred Label : Hematologic Neoplasm with Germline ETV6 Mutation;
NCIt 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);