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

Alpha-thalassemia/mental retardation syndrome X-linked (ATRX) is an important genomic marker of gliomas. Loss/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 astrocytomas will have deleted ATRX and no 1p19q co-deletion. 

Tumours with ATRX loss are usually associated with IDH1 positive (mutated) tumours, and when both are present a better prognosis can be expected over tumours with IDH1 positive but intact ATRX 1

Astrocytic tumour
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Article Information

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

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