Changes

The ''PML'' gene encodes a protein which functions via its association with nuclear bodies (NBs) in a wide range of important cellular processes including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. The protein acts as the scaffold for NBs, allowing other proteins to shuttle in and out.  Some of the Pml proteins diverse actions include: activating ''RB1'', inhibiting ''AKT1'', negatively affecings the PI3K pathway by inhibiting MTOR and activating ''PTEN'', and positively regulates p53/''TP53''.  

The ''PML'' gene encodes a protein which functions via its association with nuclear bodies (NBs) in a wide range of important cellular processes including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. The protein acts as the scaffold for NBs, allowing other proteins to shuttle in and out.  Some of the Pml proteins diverse actions include: activating ''RB1'', inhibiting ''AKT1'', negatively affecings the PI3K pathway by inhibiting MTOR and activating ''PTEN'', and positively regulates p53/''TP53''.  

Acute Promyelocytic Leukemia (APL) is a subtype of Acute Myeloid Leukemia (AML) that is almost entirely caused by the t(15;17)q22;q11) translocation resulting in the PML-RARA fusion gene.  Unlike the normal retinoic acid receptor, the Pml-Rara protein does not respond to the ligand signal to induce transcription of genes, so the genes remain repressed, ultimately resulting in the inhibition of gene expression for hematopoietic differentiation and the maturation arrest of hematopoietic progenitors at the promyelocyte stage.  In addition, while the normal PML protein blocks proliferation and induces apoptosis in combination with other proteins, the Pml-Rara protein acts as a dominant repressor of the normal PML protein [4].

Acute Promyelocytic Leukemia (APL) is a subtype of Acute Myeloid Leukemia (AML) that is almost entirely caused by the t(15;17)q22;q11) resulting in the PML-RARA fusion gene.  Unlike the normal retinoic acid receptor, the Pml-Rara protein does not respond to the ligand signal to induce transcription of genes, so the genes remain repressed, ultimately resulting in the inhibition of gene expression for hematopoietic differentiation and the maturation arrest of hematopoietic progenitors at the promyelocyte stage.  In addition, while the normal PML protein blocks proliferation and induces apoptosis in combination with other proteins, the Pml-Rara protein acts as a dominant repressor of the normal PML protein [4].

==Common Alteration Types==

==Common Alteration Types==