" /> Hematologic Neoplasm with Germline ETV6 Mutation - CISMeF





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);

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL553254;

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09/07/2025


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