Alpha-thalassemia intellectual disability syndrome X-linked (ATRX) gene is an important genomic marker of gliomas and is either intact (ATRX-wildtype) or mutated (ATRX-mutant) and is correlated with other important genomic markers including IDH, 1p19q codeletion, and p53 expression 1,2.
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ATRX and IDH
Tumors with ATRX mutation (ATRX-mutant) are usually associated with IDH positive (mutated) tumors, and when both are present a better prognosis can be expected over tumors with IDH positive but intact ATRX (ATRX-wildtype) 1-3.
ATRX and 1p19q codeletion
Mutation of ATRX is almost never seen in patients with 1p19q codeletion (i.e. they are essentially mutually exclusive). Oligodendrogliomas will, therefore, have intact ATRX and 1p19q codeletion whereas IDH-mutant astrocytomas will usually, but not always, have ATRX mutation but no 1p19q codeletion 1-3.
ATRX and p53 expression
ATRX mutation is usually associated with increased p53 expression 2.
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