HAEM5:Systemic chronic active EBV disease: Difference between revisions
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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== | ||
A high CPG-island methylation pattern has been described in a subtype of NK-cell CAEBV with a poor prognosis; these high methylation cases also showed higher tumor mutational burden (TMB).<ref name=":4">{{Cite journal|last=Akazawa|first=Ryo|last2=Mikami|first2=Takashi|last3=Yamada|first3=Masaki|last4=Kato|first4=Itaru|last5=Kubota|first5=Hirohito|last6=Saida|first6=Satoshi|last7=Uchihara|first7=Yoshinori|last8=Ishikawa|first8=Yuriko|last9=Kamitori|first9=Tatsuya|date=2025-11-06|title=Multiomics analysis reveals the genetic and epigenetic features of high-risk NK cell-type chronic active EBV infection|url=https://pubmed.ncbi.nlm.nih.gov/40737598|journal=Blood|volume=146|issue=19|pages=2336–2349|doi=10.1182/blood.2024026805|issn=1528-0020|pmid=40737598}}</ref> | A high CPG-island methylation pattern has been described in a subtype of NK-cell CAEBV with a poor prognosis; these high methylation cases also showed higher tumor mutational burden (TMB) and frequent copy number alterations (CNAs).<ref name=":4">{{Cite journal|last=Akazawa|first=Ryo|last2=Mikami|first2=Takashi|last3=Yamada|first3=Masaki|last4=Kato|first4=Itaru|last5=Kubota|first5=Hirohito|last6=Saida|first6=Satoshi|last7=Uchihara|first7=Yoshinori|last8=Ishikawa|first8=Yuriko|last9=Kamitori|first9=Tatsuya|date=2025-11-06|title=Multiomics analysis reveals the genetic and epigenetic features of high-risk NK cell-type chronic active EBV infection|url=https://pubmed.ncbi.nlm.nih.gov/40737598|journal=Blood|volume=146|issue=19|pages=2336–2349|doi=10.1182/blood.2024026805|issn=1528-0020|pmid=40737598}}</ref> | ||
==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||