Compendium of Cancer Genome Aberrations

CNS5:Diffuse leptomeningeal glioneuronal tumour: Difference between revisions

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{| class="wikitable sortable"
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!Gene!!'''Genetic Alteration'''!!'''Prevalence (COSMIC / TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene (TSG)/Oncogene/Other'''!!'''Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''!!'''Diagnostic, Prognostic, and Therapeutic Significance (D, P, T)'''
!'''Diagnostic Significance (Yes, No or Unknown)'''
!'''Established Clinical Significance Per Guidelines (Yes, No)'''
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> ''TP53''
<span class="blue-text">EXAMPLE:</span>
<br />
|<span class="blue-text">EXAMPLE:</span>Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> TSG
|<span class="blue-text">EXAMPLE:</span>Common (breast cancer)
|<span class="blue-text">EXAMPLE:</span> P
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|<span class="blue-text">EXAMPLE:</span>
 
''EGFR''
|<span class="blue-text">EXAMPLE:</span>
 
Exon 18-21 activating mutations
|<span class="blue-text">EXAMPLE:</span>
 
Oncogene
|<span class="blue-text">EXAMPLE:</span>Common (lung cancer)
|<span class="blue-text">EXAMPLE:</span>
 
T
|
|<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.
|-
|<span class="blue-text">EXAMPLE:</span>
 
''BRAF''
|<span class="blue-text">EXAMPLE:</span>
 
Activating mutations
|<span class="blue-text">EXAMPLE:</span>  


''EGFR''; Exon 20 mutations
Oncogene
|<span class="blue-text">EXAMPLE:</span>Common (melanoma)
|<span class="blue-text">EXAMPLE:</span>


<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
T
|<span class="blue-text">EXAMPLE:</span> TSG
|
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
|-
|<span class="blue-text">EXAMPLE:</span> ''IDH1'' R123H
|
|<span class="blue-text">EXAMPLE:</span> ''EGFR'' amplification
|
|<span class="blue-text">EXAMPLE:</span> Yes
|
|<span class="blue-text">EXAMPLE:</span> No
|
|<span class="blue-text">EXAMPLE:</span> No
|
|<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
|
|
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
==Epigenomic Alterations==
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