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Acute myeloid leukemia with CEBPA somatic mutations

Disease definition

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).

ORPHA:319480

Classification level: Disorder
  • Synonym(s):
    • AML with CEBPA somatic mutations
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: C92.0
  • OMIM: 601626
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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