Acute myeloid leukemia with CEBPA somatic mutations

Orpha code: 319480OMIM code: 601626

Definition

A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the <i>CEBPA</i> 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).

Disease data
Classification

Disease

Synonyms
AML with CEBPA somatic mutations
AML z somtycznymi mutacjami CEBPA
ORPHA code
319480
OMIM code
601626
ICD10 code
C92.0
ICD11 code
-

No additional description.

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