U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

MedGen UID:
1638466
Concept ID:
C4706584
Neoplastic Process
Synonyms: megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13); Megakaryoblastic AML with t(1;22)(p13;q13); megakaryoblastic AML with t(1;22)(p13;q13)
SNOMED CT: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) (763796007)
 
Monarch Initiative: MONDO:0018436
Orphanet: ORPHA402023

Definition

A rare subtype of acute myeloid leukaemia with recurrent cytogenetic abnormalities characterised 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, anaemia, thrombocytopenia and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMegakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...