STBT5:Ewing sarcoma: Difference between revisions
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==Gene Rearrangements== | ==Gene Rearrangements== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span> | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span> | ||
Ewing sarcoma is defined by fusions between a FET family gene (usually EWSR1 or rarely FUS/TAF15) and a member of the ETS family of transcription factors. These chimeric oncoproteins act as aberrant transcription factors and are required for tumorigenesis. Rare variant fusions involving non ETS partners have also been described. | |||
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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| | |''STAG2'' | ||
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| | |LOF mutations or deletions | ||
|<span class="blue-text">EXAMPLE:</span> Oncogene | |<span class="blue-text">EXAMPLE:</span> Oncogene | ||
| | |Recurrent | ||
|<span class="blue-text">EXAMPLE:</span> T | |<span class="blue-text">EXAMPLE:</span> T | ||
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN) | |<span class="blue-text">EXAMPLE:</span> Yes (NCCN) | ||
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references). | |<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references). | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations | |<span class="blue-text">EXAMPLE:</span> CDKN2A''TP53''; Variable LOF mutations | ||
<br /> | <br /> | ||
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations | |<span class="blue-text">EXAMPLE:</span> Variable LOF mutations | ||