Compendium of Cancer Genome Aberrations

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

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==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==


* 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" />,


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
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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.
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*All cases analyzed carry type A EBV with the wildtype or 30 bp deleted product of ''LMP1''
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":4" /><ref name=":8" /><blockquote class="blockedit">
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==Epigenomic Alterations==
==Epigenomic Alterations==


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==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==


 
N/A
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
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|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|N/A
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
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|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
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|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
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*N/A
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==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==


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


* Typically occurs following primary acute EBV infection; though, it may occur 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" />
 
 
 
 
 
All cases analyzed carry type A EBV with the wildtype or 30 bp deleted product of ''LMP1''<ref name=":1" /><ref name=":4" /><ref name=":8" />


Differential Diagnosis<ref>{{Cite journal|last=Montes-Mojarro|first=Ivonne A.|last2=Kim|first2=Wook Youn|last3=Fend|first3=Falko|last4=Quintanilla-Martinez|first4=Leticia|date=2020-01|title=Epstein - Barr virus positive T and NK-cell lymphoproliferations: Morphological features and differential diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/31889602|journal=Seminars in Diagnostic Pathology|volume=37|issue=1|pages=32–46|doi=10.1053/j.semdp.2019.12.004|issn=0740-2570|pmid=31889602}}</ref><ref>{{Cite journal|last=Cohen|first=Jeffrey I.|last2=Iwatsuki|first2=Keiji|last3=Ko|first3=Young-Hyeh|last4=Kimura|first4=Hiroshi|last5=Manoli|first5=Irini|last6=Ohshima|first6=Koichi|last7=Pittaluga|first7=Stefania|last8=Quintanilla-Martinez|first8=Leticia|last9=Jaffe|first9=Elaine S.|date=04 2020|title=Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting|url=https://pubmed.ncbi.nlm.nih.gov/31833428|journal=Leukemia & Lymphoma|volume=61|issue=4|pages=808–819|doi=10.1080/10428194.2019.1699080|issn=1029-2403|pmid=31833428}}</ref>
Differential Diagnosis<ref>{{Cite journal|last=Montes-Mojarro|first=Ivonne A.|last2=Kim|first2=Wook Youn|last3=Fend|first3=Falko|last4=Quintanilla-Martinez|first4=Leticia|date=2020-01|title=Epstein - Barr virus positive T and NK-cell lymphoproliferations: Morphological features and differential diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/31889602|journal=Seminars in Diagnostic Pathology|volume=37|issue=1|pages=32–46|doi=10.1053/j.semdp.2019.12.004|issn=0740-2570|pmid=31889602}}</ref><ref>{{Cite journal|last=Cohen|first=Jeffrey I.|last2=Iwatsuki|first2=Keiji|last3=Ko|first3=Young-Hyeh|last4=Kimura|first4=Hiroshi|last5=Manoli|first5=Irini|last6=Ohshima|first6=Koichi|last7=Pittaluga|first7=Stefania|last8=Quintanilla-Martinez|first8=Leticia|last9=Jaffe|first9=Elaine S.|date=04 2020|title=Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting|url=https://pubmed.ncbi.nlm.nih.gov/31833428|journal=Leukemia & Lymphoma|volume=61|issue=4|pages=808–819|doi=10.1080/10428194.2019.1699080|issn=1029-2403|pmid=31833428}}</ref>
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