Compendium of Cancer Genome Aberrations

HAEM5:Systemic chronic active EBV disease: Difference between revisions

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* Somatic mutations can be detected in a subset of CAEBV cases (~29%).<ref name=":2">{{Cite journal|last=Okuno|first=Yusuke|last2=Murata|first2=Takayuki|last3=Sato|first3=Yoshitaka|last4=Muramatsu|first4=Hideki|last5=Ito|first5=Yoshinori|last6=Watanabe|first6=Takahiro|last7=Okuno|first7=Tatsuya|last8=Murakami|first8=Norihiro|last9=Yoshida|first9=Kenichi|date=2019-03|title=Defective Epstein-Barr virus in chronic active infection and haematological malignancy|url=https://pubmed.ncbi.nlm.nih.gov/30664667|journal=Nature Microbiology|volume=4|issue=3|pages=404–413|doi=10.1038/s41564-018-0334-0|issn=2058-5276|pmid=30664667}}</ref>
* Somatic mutations can be detected in a subset of CAEBV cases (~29%).<ref name=":2">{{Cite journal|last=Okuno|first=Yusuke|last2=Murata|first2=Takayuki|last3=Sato|first3=Yoshitaka|last4=Muramatsu|first4=Hideki|last5=Ito|first5=Yoshinori|last6=Watanabe|first6=Takahiro|last7=Okuno|first7=Tatsuya|last8=Murakami|first8=Norihiro|last9=Yoshida|first9=Kenichi|date=2019-03|title=Defective Epstein-Barr virus in chronic active infection and haematological malignancy|url=https://pubmed.ncbi.nlm.nih.gov/30664667|journal=Nature Microbiology|volume=4|issue=3|pages=404–413|doi=10.1038/s41564-018-0334-0|issn=2058-5276|pmid=30664667}}</ref>
* ''DDX3X'' mutations are the most commonly implicated known driver mutations<ref name=":2" />
* ''DDX3X'' mutations are the most commonly implicated known driver mutations<ref name=":2" />
* In one study, identical driver mutations were detected in different cell lineages (T, B, and NK), demonstrating that EBV infected a common lymphoid progenitor in CAEBV patients. Acquisition of somatic mutations (ie: ''DDX3X'') in these pre-malignant, EBV-infected cells leads to clonal evolution involving multiple cell lineages.<ref name=":2" />
* In one study, identical driver mutations were detected in different cell lineages (T, B, and NK), demonstrating that EBV infected a common lymphoid progenitor in CAEBV patients. Acquisition of somatic, driver mutations in these pre-malignant, EBV-infected cells subsequently leads to clonal evolution in multiple cell lines.<ref name=":2" />
* Presence of a driver mutation associated with shorter overall survival<ref name=":2" />
* Presence of a driver mutation associated with shorter overall survival<ref name=":2" />


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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|DDX3X
 
|Truncating mutations and pathogenic missense and in-frame deletions have been reported <ref name=":2" />
<br />
|TSG<ref name=":3">{{Cite journal|title=OncoKB™ - MSK's Precision Oncology Knowledge Base|url=https://www.oncokb.org/|language=en}}</ref>
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|Recurrent (~18%)<ref name=":2" />
|<span class="blue-text">EXAMPLE:</span> Oncogene
|D, P
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|No
|<span class="blue-text">EXAMPLE:</span> T
|Presence of a driver mutation associated with shorter overall survival<ref name=":2" />  
|<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> ''TP53''; Variable LOF mutations
|KMT2D
<br />
|Truncating mutations<ref name=":2" />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|TSG<ref name=":3" />
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|Recurrent (~5%)<ref name=":2" />
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|D,P
|<span class="blue-text">EXAMPLE:</span> P
|No
|
|Presence of a driver mutation associated with shorter overall survival<ref name=":2" />  
|<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> ''BRAF''; Activating mutations
|BCOR/ BCORL1
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|Truncating mutations<ref name=":2" />
|<span class="blue-text">EXAMPLE:</span> Oncogene
|TSG<ref name=":3" />
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|Rare
|<span class="blue-text">EXAMPLE:</span> T
|D,P
|
|Np
|
|Presence of a driver mutation associated with shorter overall survival<ref name=":2" />  
|-
|-
|
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