/acute myeloid leukemia with CEBPA somatic mutations

acute myeloid leukemia with CEBPA somatic mutations

Rare Disease

MONDO:0017894

Also Known As

AML with CEBPA somatic mutationsAML with mutated CEBPAacute myeloid Leukaemia with mutated CEBPAacute myeloid Leukaemia with non-germline mutated CEBPAacute myeloid Leukemia with mutated CEBPAacute myeloid Leukemia with non-germline mutated CEBPAnon-familial acute myeloid leukaemia with mutated CEBPAnon-familial acute myeloid leukemia with mutated CEBPA

Definition

Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).