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

Changed by Daniel J Bell, 11 Aug 2019

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Alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene (tumour marker)
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I Alpha-thalassemia/mental retardation syndrome X-linked (ATRX) genegene 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

ATRX and IDH

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

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 1-3

ATRX and p53 expression

ATRX-mt is usually associated with increased p53 expression 2

  • -<p><strong>Alpha-thalassemia/mental retardation syndrome X-linked (<em>ATRX</em>)</strong> 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 <sup>1,2</sup>. </p><h4>ATRX and IDH</h4><p>Tumours with <em>ATRX</em> mutation (ATRX-mt) are usually associated with <a href="/articles/isocitrate-dehydrogenase">IDH positive</a> (mutated) tumours, and when both are present a better prognosis can be expected over tumours with IDH1 positive but intact <em>ATRX </em>(ATRX-wt) <sup>1-3</sup>. </p><h4>ATRX and 1p19q co-deletion</h4><p>Mutation of <em>ATRX</em> is almost never seen in patients with <a href="/articles/1p19q-codeletion">1p/19q co-deletion</a> (i.e. they are essentially mutually exclusive). <a href="/articles/oligodendroglioma">Oligodendrogliomas</a> will, therefore, have intact ATRX and 1p19q co-deletion whereas IDH-mt <a href="/articles/astrocytic-tumours">astrocytomas</a> will usually, but not always, have ATRX-mt but no 1p19q co-deletion <sup>1-3</sup>. </p><h4>ATRX and p53 expression</h4><p>ATRX-mt is usually associated with increased p53 expression <sup>2</sup>. </p><p> </p>
  • +<p><strong>I Alpha-thalassemia/mental retardation syndrome X-linked (<em>ATRX</em>)</strong> <strong>gene</strong> 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 <sup>1,2</sup>. </p><h4>ATRX and IDH</h4><p>Tumours with <em>ATRX</em> mutation (ATRX-mt) are usually associated with <a href="/articles/isocitrate-dehydrogenase">IDH positive</a> (mutated) tumours, and when both are present a better prognosis can be expected over tumours with IDH1 positive but intact <em>ATRX </em>(ATRX-wt) <sup>1-3</sup>. </p><h4>ATRX and 1p19q co-deletion</h4><p>Mutation of <em>ATRX</em> is almost never seen in patients with <a href="/articles/1p19q-codeletion">1p/19q co-deletion</a> (i.e. they are essentially mutually exclusive). <a href="/articles/oligodendroglioma">Oligodendrogliomas</a> will, therefore, have intact ATRX and 1p19q co-deletion whereas IDH-mt <a href="/articles/astrocytic-tumours">astrocytomas</a> will usually, but not always, have ATRX-mt but no 1p19q co-deletion <sup>1-3</sup>. </p><h4>ATRX and p53 expression</h4><p>ATRX-mt is usually associated with increased p53 expression <sup>2</sup>. </p>

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