Alpha thalassemia/mental retardation syndrome X-linked (ATRX)

Alpha-thalassemia/mental retardation 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 1,2

Tumours with ATRX mutation (ATRX-mt) are usually associated with IDH positive (mutated) tumours, and when both are present a better prognosis can be expected over tumours with IDH1 positive but intact ATRX (ATRX-wt) 1-3

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 1-3

ATRX-mt is usually associated with increased p53 expression 2

 

Astrocytic tumour
Share article

Article information

rID: 41943
Synonyms or Alternate Spellings:
  • Alpha-thalassemia/mental retardation syndrome X-linked (ATRX)

Support Radiopaedia and see fewer ads

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.