HAEM5:Systemic chronic active EBV disease: Difference between revisions

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 ==Gene Mutations (SNV/INDEL)==
-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>
+* Somatic mutations can be detected in a subset of CAEBV cases (~29%).<ref name=":2">{{Cite journal|last=Okuno|first=Yusuke|last2=Murata|first2=Takayuki|last3=Sato|first3=Yoshitaka|last4=Muramatsu|first4=Hideki|last5=Ito|first5=Yoshinori|last6=Watanabe|first6=Takahiro|last7=Okuno|first7=Tatsuya|last8=Murakami|first8=Norihiro|last9=Yoshida|first9=Kenichi|date=2019-03|title=Defective Epstein-Barr virus in chronic active infection and haematological malignancy|url=https://pubmed.ncbi.nlm.nih.gov/30664667|journal=Nature Microbiology|volume=4|issue=3|pages=404–413|doi=10.1038/s41564-018-0334-0|issn=2058-5276|pmid=30664667}}</ref>
+* ''DDX3X'' mutations are the most commonly implicated known driver mutations<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 mutations (ie: ''DDX3X'') in these pre-malignant, EBV-infected cells leads to clonal evolution involving multiple cell lineages.<ref name=":2" />
+* Presence of a driver mutation associated with shorter overall survival<ref name=":2" />
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 ** Exclusion of known immunodeficiency, malignancy, or autoimmune disorders
-* Both the WHO 5<sup>th</sup> edition and ICC include detection of increased EBV DNA in the peripheral blood and/or EBV RNA (EBER) or viral protein in T or NK-cells of affected tissues.<ref name=":0" /><ref name=":1" />
+* '''Both the WHO 5<sup>th</sup> edition and ICC include detection of increased EBV DNA in the peripheral blood and/or EBV RNA (EBER) or viral protein in T or NK-cells of affected tissues.<ref name=":0" /><ref name=":1" />'''
 ** Whole blood or peripheral blood mononuclear cells are preferred for EBV DNA PCR testing, as serum or plasma are less sensitive for CAEBV disease<ref>{{Cite journal|last=Kimura|first=Hiroshi|last2=Cohen|first2=Jeffrey I.|date=2017|title=Chronic Active Epstein-Barr Virus Disease|url=https://pubmed.ncbi.nlm.nih.gov/29375552|journal=Frontiers in Immunology|volume=8|pages=1867|doi=10.3389/fimmu.2017.01867|issn=1664-3224|pmc=5770746|pmid=29375552}}</ref>
 ** In tissues, using a double stain for B, T, or NK-cell markers and EBV is recommended.