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GENATLAS PHENOTYPE
last update : 11-02-2009
Symbol PML
Location 15q24.1 and 17q11
Name acute promyelocytic leukemia (APL)
Corresponding gene PML , RARA
Other symbol(s) MYL
Main clinical features
  • with translocation t(15;17)(q22;q12) and poor prognosis
  • may be associated with a hemorrhagic diathesis, secundary to an overexpression of annexin II with a secundary itinease of plasmin (see RARA), with translocation (2;15) (p23;q22) in myelogenous leukemia
    • Genetic determination
    Function/system disorder hematology
    Type malignancy
    Gene product
    Name chimeric fusion protein (several forms) 5' - PML - RARA - 3', mediating leukemogenesis through aberrant chromatin acetylation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      translocation   acquired t(15;17)(q22;q11.2-q12) specifically associated with acute promyelocytic leukemia (APL)
    Remark(s)