HAEM5:Systemic chronic active EBV disease: Difference between revisions
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* 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" /> | * 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" /> | ||
* Mutations in DDX3X, KMT2D, BCOR/BCORL1, TET2, and KDM6A have been described.<ref name=":2" /> Mutations in KMT2B and ARID1a have also recently been described.<ref>{{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> | |||
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|No | |No | ||
|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" /> | ||
|}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== | ||
Put your text here | Put your text here | ||