CNS5:Diffuse leptomeningeal glioneuronal tumour: Difference between revisions
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|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR''::''ABL1'' | |<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR''::''ABL1'' | ||
|<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ ''BCR'' and 3’''ABL1''. | |<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ ''BCR'' and 3’''ABL1''. | ||
|<span class="blue-text">EXAMPLE:</span>t(9;22)(q34;q11.2) | |<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2) | ||
|<span class="blue-text">EXAMPLE:</span> Common (CML) | |<span class="blue-text">EXAMPLE:</span> Common (CML) | ||
|<span class="blue-text">EXAMPLE:</span> D, P | |<span class="blue-text">EXAMPLE:</span> D, P | ||
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|<span class="blue-text">EXAMPLE:</span> ''CIC''::''DUX4'' | |<span class="blue-text">EXAMPLE:</span> ''CIC''::''DUX4'' | ||
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is typically intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''. | |<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is typically intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''. | ||
|<span class="blue-text">EXAMPLE:</span>t(4;19)(q25;q13) | |<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13) | ||
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma) | |<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma) | ||
|<span class="blue-text">EXAMPLE:</span> D | |<span class="blue-text">EXAMPLE:</span> D | ||
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Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1'' | Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1'' | ||
|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4''::''ALK'', with breakpoints in intron 19 of ''ALK.'' At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18. | |<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4''::''ALK'', with breakpoints in intron 19 of ''ALK.'' At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18. | ||
|<span class="blue-text">EXAMPLE:</span>N/A | |<span class="blue-text">EXAMPLE:</span> N/A | ||
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma) | |<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma) | ||
|<span class="blue-text">EXAMPLE:</span>T | |<span class="blue-text">EXAMPLE:</span> T | ||
| | | | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
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|<span class="blue-text">EXAMPLE:</span> N/A | |<span class="blue-text">EXAMPLE:</span> N/A | ||
|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. | |<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. | ||
|<span class="blue-text">EXAMPLE:</span>N/A | |<span class="blue-text">EXAMPLE:</span> N/A | ||
|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma) | |<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma) | ||
|<span class="blue-text">EXAMPLE:</span> D, P, T | |<span class="blue-text">EXAMPLE:</span> D, P, T | ||
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!Notes | !Notes | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> 7 | ||
7 | |||
|<span class="blue-text">EXAMPLE:</span> Loss | |<span class="blue-text">EXAMPLE:</span> Loss | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> chr7:1-159,335,973 [hg38] | ||
chr7:1-159,335,973 [hg38] | |<span class="blue-text">EXAMPLE:</span> chr7 | ||
|<span class="blue-text">EXAMPLE:</span> | |||
chr7 | |||
|<span class="blue-text">EXAMPLE:</span> Yes | |<span class="blue-text">EXAMPLE:</span> Yes | ||
|<span class="blue-text">EXAMPLE:</span> Yes | |<span class="blue-text">EXAMPLE:</span> Yes | ||
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Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference). | Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference). | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> 8 | ||
8 | |||
|<span class="blue-text">EXAMPLE:</span> Gain | |<span class="blue-text">EXAMPLE:</span> Gain | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> chr8:1-145,138,636 [hg38] | ||
chr8:1-145,138,636 [hg38] | |<span class="blue-text">EXAMPLE:</span> chr8 | ||
|<span class="blue-text">EXAMPLE:</span> | |||
chr8 | |||
|<span class="blue-text">EXAMPLE:</span> No | |<span class="blue-text">EXAMPLE:</span> No | ||
|<span class="blue-text">EXAMPLE:</span> No | |<span class="blue-text">EXAMPLE:</span> No | ||
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!Notes | !Notes | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> Co-deletion of 1p and 18q | ||
Co-deletion of 1p and 18q | |||
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | |<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | ||
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma) | |<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma) | ||
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| | | | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> Microsatellite instability - hypermutated | ||
Microsatellite instability - hypermutated | |||
| | | | ||
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma) | |<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma) | ||
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|<span class="blue-text">EXAMPLE:</span> ''TP53'' | |<span class="blue-text">EXAMPLE:</span> ''TP53'' | ||
<br /> | <br /> | ||
|<span class="blue-text">EXAMPLE:</span>Variable LOF mutations | |<span class="blue-text">EXAMPLE:</span> Variable LOF mutations | ||
|<span class="blue-text">EXAMPLE:</span> TSG | |<span class="blue-text">EXAMPLE:</span> TSG | ||
|<span class="blue-text">EXAMPLE:</span>Common (breast cancer) | |<span class="blue-text">EXAMPLE:</span> Common (breast cancer) | ||
|<span class="blue-text">EXAMPLE:</span> P | |<span class="blue-text">EXAMPLE:</span> P | ||
| | | | ||
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Exon 18-21 activating mutations | Exon 18-21 activating mutations | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> Oncogene | ||
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer) | |||
Oncogene | |<span class="blue-text">EXAMPLE:</span> T | ||
|<span class="blue-text">EXAMPLE:</span>Common (lung cancer) | |||
|<span class="blue-text">EXAMPLE:</span> | |||
T | |||
| | | | ||
|<span class="blue-text">EXAMPLE:</span> | |<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. | ||
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. | |||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
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Activating mutations | Activating mutations | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> Oncogene | ||
|<span class="blue-text">EXAMPLE:</span> Common (melanoma) | |||
Oncogene | |<span class="blue-text">EXAMPLE:</span> T | ||
|<span class="blue-text">EXAMPLE:</span>Common (melanoma) | |||
|<span class="blue-text">EXAMPLE:</span> | |||
T | |||
| | | | ||
| | | | ||