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Acute myeloid leukemia with t(8;16)(p11;p13) translocation

MedGen UID:
1376688
Concept ID:
C4511003
Neoplastic Process
Synonyms: Acute Myeloid Leukemia with KAT6A-CREBBP; Acute Myeloid Leukemia with KAT6A-CREBBP Fusion; Acute Myeloid Leukemia with KAT6A::CREBBP; Acute myeloid leukemia with KAT6A::CREBBP fusion; Acute Myeloid Leukemia with KAT6A::CREBBP Fusion; acute myeloid leukemia with t(8;16)(p11;p13) translocation; AML with KAT6A-CREBBP; AML with KAT6A-CREBBP Fusion; AML with KAT6A::CREBBP; AML with KAT6A::CREBBP Fusion; AML with t(8;16)(p11;p13) translocation
SNOMED CT: Acute myeloid leukemia with t(8;16)(p11;p13) translocation (725390002); Acute myeloid leukemia with t(8;16)(p11;p13) translocation (725391003); Acute myeloid leukemia with KAT6A::CREBBP fusion (725391003)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018256
Orphanet: ORPHA370026

Definition

A distinct form of acute myeloid leukaemia in which this chromosomal anomaly is found de novo or in therapy-related cases. The disease is characterised by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute myeloid leukemia with t(8;16)(p11;p13) translocation

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