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

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) 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
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Article information

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

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