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GENATLAS PHENOTYPE
last update : 20/10/2006
Symbol AML1
Location 21q22.12
Name sporadic myeloid and lymphoid leukemias
Corresponding gene RUNX1
Main clinical features
  • acquired somatic rearrangements, mainly translocations with chimeric proteins, in a variety of myeloid and lymphoid disorders
    • Genetic determination
    Related entries FPDAML
    Function/system disorder hematology
    Type malignancy
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      translocation   t(8;21)(q22;q22)in AML M2 subtype, t(16;21)(q24;q22) (CBFB), t(3;21)(q26;q22) in myelodysplasia syndrome (EVI1, MDS1), t(12;21)(p13;q22)in acute lymphoblastic leukemia(ETV6), and others
    various types     sporadic point mutations in AML M0 subtype, MDS-AML, therapy-related MDS/AML
    amplification     in a subtype of ALL (iAMP21)
    Remark(s) RUNX1(AML1) is one of the most frequent targets of chromosome translocations associated with leukemia
    Genotype/Phenotype correlations germline mutations give rise to a familial platelet disoder with ppredisposition to acute myelogenous leukemia FPD/AML