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

Last revised by Joshua Yap on 13 Oct 2022

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

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

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 mutation is usually associated with increased p53 expression 2

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