CNS5:Diffuse leptomeningeal glioneuronal tumour: Difference between revisions
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<span style="color:#0070C0">(''General Instructions – | <span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge using various resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA will capture the current genetics/genomics knowledge that evolves more rapidly than books can be updated and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].''</span> | ||
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==WHO Essential and Desirable Genetic Diagnostic Criteria== | ==WHO Essential and Desirable Genetic Diagnostic Criteria== | ||
Put your text here <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO autopopulated; remove any | Put your text here <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO autopopulated; remove any non-genetics related criteria. If applicable, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.'') </span> | ||
{| class="wikitable" | {| class="wikitable" | ||
|WHO Essential Criteria (Genetics)* | |WHO Essential Criteria (Genetics)* | ||
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|WHO Desirable Criteria (Genetics)* | |WHO Desirable Criteria (Genetics)* | ||
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|Other Classification | |||
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==Chromosomal Rearrangements== | |||
== | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'')</span> | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span> | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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! | !Driver Gene!!'''Fusion(s) and Common Partner Genes'''!!'''Molecular Pathogenesis'''!!'''Typical Chromosomal Alteration(s)''' | ||
!'''Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)''' | |||
!'''Diagnostic, Prognostic, and Therapeutic Significance (D, P, T)''' | |||
!'''Established Clinical Significance Per Guidelines (Yes, No)''' | |||
!Notes | |||
|- | |- | ||
| | |<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>t(9;22)(q34;q11.2) | |||
|<span class="blue-text">EXAMPLE:</span> Common (CML) | |||
(add reference) | |||
|<span class="blue-text">EXAMPLE:</span> D, P | |||
|<span class="blue-text">EXAMPLE:</span> Yes | |||
|<span class="blue-text">EXAMPLE:</span> | |||
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). | |||
|- | |- | ||
| | |<span class="blue-text">EXAMPLE:</span> ''CIC'' | ||
|<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>t(4;19)(q25;q13) | |||
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma) | |||
(add reference) | |||
|<span class="blue-text">EXAMPLE:</span> D | |||
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|<span class="blue-text">EXAMPLE:</span> | |||
''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references). | |||
|- | |- | ||
| | |<span class="blue-text">EXAMPLE:</span> ''ALK'' | ||
|<span class="blue-text">EXAMPLE:</span> ''EML4''::''ALK'' | |||
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>N/A | |||
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma) | |||
|<span class="blue-text">EXAMPLE:</span>T | |||
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|<span class="blue-text">EXAMPLE:</span> | |||
Both balanced and unbalanced forms are observed by FISH (add references). | |||
|- | |- | ||
| | |<span class="blue-text">EXAMPLE:</span> ''EGFRvIII'' | ||
| | |<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>N/A | |||
|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma) | |||
|<span class="blue-text">EXAMPLE:</span> D, P, T | |||
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==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||