Compendium of Cancer Genome Aberrations

HAEM5:Systemic EBV-positive T-cell lymphoma of childhood: Difference between revisions

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== Gene Mutations (SNV/INDELS) ==
== Gene Mutations (SNV/INDELS) ==
<center>
 
* Somatic mutations have been reported; however, consistent/recurrent mutations are not well-described.<ref name=":10" />
* Somatic mutations have been reported; however, consistent/recurrent mutations are not well-described.<ref name=":10" />
 
* Rare reports of mutations in FYN<ref name=":10" /><center>
* Rare reports of mutations in FYN<ref name=":10" />,
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
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|<span class="blue-text">EXAMPLE:</span>''EGFR''
|N/A
 
<br />
|<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> 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
<br />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|<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> ''BRAF''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|<span class="blue-text">EXAMPLE:</span> T
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|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], 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 [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
 
== Epigenomic Alterations ==
N/A
N/A


==Genes and Main Pathways Involved==
== Genes and Main Pathways Involved ==
 
N/A<center>
N/A
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==Genetic Diagnostic Testing Methods==


*WHO 5th edition ''essential'' diagnostic criteria include:<ref name=":3" /><ref name=":6" />
== Genetic Diagnostic Testing Methods ==
**Acute presentation with fever and systemic symptoms
 
**Multiorgan infiltration by atypical T-cells
* WHO 5th edition ''essential'' diagnostic criteria include:<ref name=":3" /><ref name=":6" />
**EBV-positivity exclusion of known immunodeficiency
** Acute presentation with fever and systemic symptoms
*WHO 5th edition ''desirable'' diagnostic criteria include:<ref name=":3" /><ref name=":6" />
** Multiorgan infiltration by atypical T-cells
**Clonal TCR-gene rearrangement
** EBV-positivity exclusion of known immunodeficiency
**Hemophagocytic lymphohistiocytosis (HLH)
 
**Hepatosplenomegaly
* WHO 5th edition ''desirable'' diagnostic criteria include:<ref name=":3" /><ref name=":6" />
*TCR-gene rearrangements can be detected via PCR or NGS methods. Of note, T-cell clonality can also be detected in EBV-associated HLH and other EBV-associated disorders.<ref name=":10" />
** Clonal TCR-gene rearrangement
** Hemophagocytic lymphohistiocytosis (HLH)
** Hepatosplenomegaly


==Familial Forms==
* TCR-gene rearrangements can be detected via PCR or NGS methods. Of note, T-cell clonality can also be detected in EBV-associated HLH and other EBV-associated disorders.<ref name=":10" />


*Racial predisposition suggests a genetic background; however, no specific genetic abnormalities have been detected
== Familial Forms ==
Racial predisposition suggests a genetic background; however, no specific genetic abnormalities have been detected


==Additional Information==
== Additional Information ==


* Typically occurs following primary acute EBV infection; though, it rarely reported in patients with a history of systemic chronic active EBV (CAEBV)<ref name=":10" />
* Typically occurs following primary acute EBV infection; though, it rarely reported in patients with a history of systemic chronic active EBV (CAEBV)<ref name=":10" /><center>




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