What are DAXX and ATRX?
The ATRX (alpha-thalassemia/mental retardation syndrome X-linked) and DAXX (death domain associated protein) genes encode proteins bind with each other to form a histone chaperone complex involved in depositing histone variant H3. 3 at the telomeres and pericentric heterochromatin regions of the genome (10, 12, 13).
What does ATRX stand for?
Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.
What is ATRX loss?
ATRX loss refines the classification of anaplastic gliomas and identifies a subgroup of IDH mutant astrocytic tumors with better prognosis. Acta Neuropathol.
What does the TP53 gene do?
The TP53 gene provides instructions for making a protein called tumor protein p53 (or p53). This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing (proliferating) too fast or in an uncontrolled way.
Why do gliomas not metastasize?
Resistance of the endothelium to invasion by gliomas, resistance of the lungs to growth of gliomas (especially medulloblastomas), inability of gliomas to induce stroma, and immunological factors have been cited,1 but no one seems to have seriously considered the time elements that may be involved.
Where do gliomas metastasize?
Extracranial metastases may develop from malignant gliomas. According to the literature, the most common extracranial site is intraspinal (along the neural axis), followed by the vertebrae, lungs, liver, and lymph nodes.
What happens when the TP53 gene is mutated?
If you have a TP53 mutation, the gene may not be able to control the growth of your cells. Uncontrolled cell growth can lead to cancer. A TP53 mutation can be inherited from your parents, or acquired later in life from the environment or from a mistake that happens in your body during cell division.
What type of mutation is TP53?
Somatic mutations in the TP53 gene are one of the most frequent alterations in human cancers, and germline mutations are the underlying cause of Li-Fraumeni syndrome, which predisposes to a wide spectrum of early-onset cancers. Most mutations are single-base substitutions distributed throughout the coding sequence.