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

^ http://purl.obolibrary.org/obo/MONDO_0018436


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 hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. [ Orphanet:402023 ]

Term info

database cross reference
  • SCTID:763796007 (MONDO:equivalentTo)
  • Orphanet:402023 (MONDO:equivalentTo)
Subsets

ordo_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 hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_402023, http://identifiers.org/snomedct/763796007

has exact synonym

megakaryoblastic AML with t(1;22)(p13;q13)

id

MONDO:0018436

Term relations

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