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Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

Disease definition

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.

ORPHA:402023

Classification level: Disorder
  • Synonym(s):
    • Megakaryoblastic AML with t(1;22)(p13;q13)
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: C94.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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