Compendium of Cancer Genome Aberrations

HAEM5:Extranodal NK/T-cell lymphoma: Difference between revisions

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


Recurrent mutations have been identified in several genes, listed below. Currently, molecular testing for these alterations is not routinely performed.
Recurrent mutations have been identified in several genes, some of which are listed below. This is not an exhaustive list. Currently, molecular testing for these alterations is not routinely performed.


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|''KIT''<ref name=":1" />
|''MYC''<ref name=":12">{{Cite journal|last=Ng|first=Siok-Bian|last2=Selvarajan|first2=Viknesvaran|last3=Huang|first3=Gaofeng|last4=Zhou|first4=Jianbiao|last5=Feldman|first5=Andrew L.|last6=Law|first6=Mark|last7=Kwong|first7=Yok-Lam|last8=Shimizu|first8=Norio|last9=Kagami|first9=Yoshitoyo|date=2011-03|title=Activated oncogenic pathways and therapeutic targets in extranodal nasal-type NK/T cell lymphoma revealed by gene expression profiling|url=https://pubmed.ncbi.nlm.nih.gov/21294123|journal=The Journal of Pathology|volume=223|issue=4|pages=496–510|doi=10.1002/path.2823|issn=1096-9896|pmid=21294123}}</ref>
|Oncogene
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|''CTNNB1''<ref name=":1" />
|Oncogene
|Oncogene
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|''HACE1''<ref name=":9" /><ref>{{Cite journal|last=Huang|first=Yenlin|last2=de Reyniès|first2=Aurélien|last3=de Leval|first3=Laurence|last4=Ghazi|first4=Bouchra|last5=Martin-Garcia|first5=Nadine|last6=Travert|first6=Marion|last7=Bosq|first7=Jacques|last8=Brière|first8=Josette|last9=Petit|first9=Barbara|date=2010-02-11|title=Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type|url=https://pubmed.ncbi.nlm.nih.gov/19965620|journal=Blood|volume=115|issue=6|pages=1226–1237|doi=10.1182/blood-2009-05-221275|issn=1528-0020|pmc=2826234|pmid=19965620}}</ref>
|''HACE1''<ref name=":9" /><ref name=":13">{{Cite journal|last=Huang|first=Yenlin|last2=de Reyniès|first2=Aurélien|last3=de Leval|first3=Laurence|last4=Ghazi|first4=Bouchra|last5=Martin-Garcia|first5=Nadine|last6=Travert|first6=Marion|last7=Bosq|first7=Jacques|last8=Brière|first8=Josette|last9=Petit|first9=Barbara|date=2010-02-11|title=Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type|url=https://pubmed.ncbi.nlm.nih.gov/19965620|journal=Blood|volume=115|issue=6|pages=1226–1237|doi=10.1182/blood-2009-05-221275|issn=1528-0020|pmc=2826234|pmid=19965620}}</ref>
|Tumor suppressor gene
|Tumor suppressor gene
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|''MYC''
|PDGFRA<ref name=":13" />
|Oncogene
|Oncogene
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|DDX3X<ref name=":2" />
|Other (RNA helicase)
|20%<ref name=":2" />
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==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
[https://ashpublications.org/blood/article/115/6/1226/26917/Gene-expression-profiling-identifies-emerging Huang, ''et al''] described deregulation of several signaling pathways in NKTCL, main ones listed below.
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|JAK/STAT pathway
|JAK/STAT pathway
|Increased cell growth and proliferation
|Increased cell growth and proliferation
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|AKT pathway
|Increased cell growth, proliferation and survival
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|NF-κB related genes
|NF-κB pathway
|Increased cell proliferation
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|PDGFRA
|PDGF pathway
|Increased cell proliferation and survival
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|NOTCH1 pathway
|Increased cell proliferation
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|Aurora kinase pathway<ref name=":12" />
|Increased cell proliferation and cell cycle dysregulation
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Retrieved from "https://test.ccga.io/index.php/HAEM5:Extranodal_NK/T-cell_lymphoma"