Alpha thalassemia/intellectual disability syndrome X-linked (ATRX) gene (tumor marker)

Alpha-thalassemia/intellectual disability syndrome X-linked (ATRX) gene is an important genomic marker of gliomas and is either intact (ATRX wild-type) or mutated (ATRX-mutant) and is correlated with other important genomic markers including IDH, 1p19q codeletion and p53 expression .

ATRX and IDH

Tumors with ATRX mutation (ATRX-mt) are usually associated with IDH positive (mutated) tumors, and when both are present a better prognosis can be expected over tumors with IDH1 positive but intact ATRX (ATRX-wt) .

ATRX and 1p19q co-deletion

Mutation of ATRX is almost never seen in patients with 1p/19q co-deletion (i.e. they are essentially mutually exclusive). Oligodendrogliomas will, therefore, have intact ATRX and 1p19q co-deletion whereas IDH-mt astrocytomas will usually, but not always, have ATRX-mt but no 1p19q co-deletion .

ATRX and p53 expression

ATRX-mt is usually associated with increased p53 expression .