Acute myeloid leukemia with CEBPA somatic mutations

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).

Also known as acute myeloid Leukaemia with mutated CEBPA, acute myeloid Leukaemia with non-germline mutated CEBPA, acute myeloid Leukemia with mutated CEBPA, acute myeloid Leukemia with non-germline mutated CEBPA, AML with CEBPA somatic mutations, AML with mutated CEBPA, non-familial acute myeloid leukaemia with mutated CEBPA, non-familial acute myeloid leukemia with mutated CEBPA — per MONDO

Also identified as

• DOID 0081095 per MONDO
• NCIT C82433 per MONDO
• Orphanet 319480 per MONDO
• SCTID 764855007 per MONDO
• UMLS C4707178 per MONDO

Affected Organs