acute myeloid leukemia with CEBPA somatic mutations https://www.malacards.org/card/acute_myeloid_leukemia_with_mutated_cebpa DOID:0081095 NCIT:C82433 AML with CEBPA somatic mutations SCTID:764855007 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). AML with mutated CEBPA Orphanet:319480 MEDGEN:1640289 acute myeloid Leukaemia with non-germline mutated CEBPA non-familial acute myeloid leukemia with mutated CEBPA GARD:0017451 acute myeloid Leukemia with mutated CEBPA MONDO:0017894 UMLS:C4707178 acute myeloid Leukemia with non-germline mutated CEBPA non-familial acute myeloid leukaemia with mutated CEBPA acute myeloid Leukaemia with mutated CEBPA acute myeloid leukemia