HAEM5:Systemic chronic active EBV disease: Difference between revisions

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|Cases with monomorphic and monoclonal proliferation have a poorer outcome than those with polymorphic and polyclonal proliferation.<ref name=":52">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref><ref /><ref />

|Cases with monomorphic and monoclonal proliferation have a poorer outcome than those with polymorphic and polyclonal proliferation.<ref name=":52">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref><ref>{{Cite journal|last=Ohshima|first=Koichi|last2=Kimura|first2=Hiroshi|last3=Yoshino|first3=Tadashi|last4=Kim|first4=Chul Woo|last5=Ko|first5=Young H.|last6=Lee|first6=Seung-Suk|last7=Peh|first7=Suat-Cheng|last8=Chan|first8=John K. C.|last9=CAEBV Study Group|date=2008-04|title=Proposed categorization of pathological states of EBV-associated T/natural killer-cell lymphoproliferative disorder (LPD) in children and young adults: overlap with chronic active EBV infection and infantile fulminant EBV T-LPD|url=https://pubmed.ncbi.nlm.nih.gov/18324913|journal=Pathology International|volume=58|issue=4|pages=209–217|doi=10.1111/j.1440-1827.2008.02213.x|issn=1440-1827|pmid=18324913}}</ref>

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==Individual Region Genomic Gain/Loss/LOH==

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==Genetic Diagnostic Testing Methods==

* ~~'''~~EBV DNA PCR testing in peripheral blood (WHO 5<sup>th</sup> edition / International Consensus Classification (ICC))~~'''~~

* EBV DNA PCR testing in peripheral blood (WHO 5<sup>th</sup> edition / International Consensus Classification (ICC))

** >10,000 IU/mL by ICC criteria

** Whole blood or peripheral blood mononuclear cells preferred 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>

* ~~'''~~Or EBV RNA (EBER)- or viral protein-positive cells in T- or NK-cells of affected tissues.~~'''~~<ref name=":5">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref>~~'''~~<ref name=":0">{{Cite journal|title=BlueBooksOnline|url=https://tumourclassification.iarc.who.int/chapters/63}}</ref><ref name=":1">Arber DA, Borowitz MJ, Cook JR, et al. ''The International Consensus Classification of Myeloid and Lymphoid Neoplasms''.; 2025.</ref>~~'''~~

* Or EBV RNA (EBER)- or viral protein-positive cells in T- or NK-cells of affected tissues.<ref name=":5">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref><ref name=":0">{{Cite journal|title=BlueBooksOnline|url=https://tumourclassification.iarc.who.int/chapters/63}}</ref><ref name=":1">Arber DA, Borowitz MJ, Cook JR, et al. ''The International Consensus Classification of Myeloid and Lymphoid Neoplasms''.; 2025.</ref>

** Using a double stain for B, T, or NK-cell markers and EBV is recommended.

==Familial Forms==

Germline mutations have only rarely been detected in CAEBV<ref>{{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>

* Germline mutations have only rarely been detected in CAEBV<ref>{{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>

==Additional Information==

* CAEBV shows an increased prevalence in populations from Asia and Latin America, suggesting a potential for genetic polymorphisms in immune-modulating genes to play a role in disease pathogenesis.<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> <ref>{{Cite journal|last=Kimura|first=Hiroshi|date=2006|title=Pathogenesis of chronic active Epstein-Barr virus infection: is this an infectious disease, lymphoproliferative disorder, or immunodeficiency?|url=https://pubmed.ncbi.nlm.nih.gov/16791843|journal=Reviews in Medical Virology|volume=16|issue=4|pages=251–261|doi=10.1002/rmv.505|issn=1052-9276|pmid=16791843}}</ref>

* EBV clonality testing showed monoclonality (84%), oligoclonality (11%), or polyclonality (5%).<ref>{{Cite journal|last=Kimura|first=Hiroshi|last2=Ito|first2=Yoshinori|last3=Kawabe|first3=Shinji|last4=Gotoh|first4=Kensei|last5=Takahashi|first5=Yoshiyuki|last6=Kojima|first6=Seiji|last7=Naoe|first7=Tomoki|last8=Esaki|first8=Shinichi|last9=Kikuta|first9=Atsushi|date=2012-01-19|title=EBV-associated T/NK-cell lymphoproliferative diseases in nonimmunocompromised hosts: prospective analysis of 108 cases|url=https://pubmed.ncbi.nlm.nih.gov/22096243|journal=Blood|volume=119|issue=3|pages=673–686|doi=10.1182/blood-2011-10-381921|issn=1528-0020|pmid=22096243}}</ref> TCR clonality testing is described above (see gene rearrangements)

* EBV clonality testing showed monoclonality (84%), oligoclonality (11%), or polyclonality (5%).<ref>{{Cite journal|last=Kimura|first=Hiroshi|last2=Ito|first2=Yoshinori|last3=Kawabe|first3=Shinji|last4=Gotoh|first4=Kensei|last5=Takahashi|first5=Yoshiyuki|last6=Kojima|first6=Seiji|last7=Naoe|first7=Tomoki|last8=Esaki|first8=Shinichi|last9=Kikuta|first9=Atsushi|date=2012-01-19|title=EBV-associated T/NK-cell lymphoproliferative diseases in nonimmunocompromised hosts: prospective analysis of 108 cases|url=https://pubmed.ncbi.nlm.nih.gov/22096243|journal=Blood|volume=119|issue=3|pages=673–686|doi=10.1182/blood-2011-10-381921|issn=1528-0020|pmid=22096243}}</ref>

* TCR clonality testing is described above (see gene rearrangements)

==Links==

@@ Line 30: / Line 30: @@
 {| class="wikitable"
-|+
 |Acceptable
 |N/A
@@ Line 52: / Line 51: @@
 |D
 |No
-|Cases with monomorphic and monoclonal proliferation have a poorer outcome than those with polymorphic and polyclonal proliferation.<ref name=":52">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref><ref /><ref />
+|Cases with monomorphic and monoclonal proliferation have a poorer outcome than those with polymorphic and polyclonal proliferation.<ref name=":52">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref><ref>{{Cite journal|last=Ohshima|first=Koichi|last2=Kimura|first2=Hiroshi|last3=Yoshino|first3=Tadashi|last4=Kim|first4=Chul Woo|last5=Ko|first5=Young H.|last6=Lee|first6=Seung-Suk|last7=Peh|first7=Suat-Cheng|last8=Chan|first8=John K. C.|last9=CAEBV Study Group|date=2008-04|title=Proposed categorization of pathological states of EBV-associated T/natural killer-cell lymphoproliferative disorder (LPD) in children and young adults: overlap with chronic active EBV infection and infantile fulminant EBV T-LPD|url=https://pubmed.ncbi.nlm.nih.gov/18324913|journal=Pathology International|volume=58|issue=4|pages=209–217|doi=10.1111/j.1440-1827.2008.02213.x|issn=1440-1827|pmid=18324913}}</ref>
 |}
 ==Individual Region Genomic Gain/Loss/LOH==
@@ Line 167: / Line 166: @@
 ==Genetic Diagnostic Testing Methods==
-* '''EBV DNA PCR testing in peripheral blood (WHO 5<sup>th</sup> edition / International Consensus Classification (ICC))'''
+* EBV DNA PCR testing in peripheral blood (WHO 5<sup>th</sup> edition / International Consensus Classification (ICC))
 ** >10,000 IU/mL by ICC criteria
 ** Whole blood or peripheral blood mononuclear cells preferred 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>
-* '''Or EBV RNA (EBER)- or viral protein-positive cells in T- or NK-cells of affected tissues.'''<ref name=":5">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref>'''<ref name=":0">{{Cite journal|title=BlueBooksOnline|url=https://tumourclassification.iarc.who.int/chapters/63}}</ref><ref name=":1">Arber DA, Borowitz MJ, Cook JR, et al. ''The International Consensus Classification of Myeloid and Lymphoid Neoplasms''.; 2025.</ref>'''
+* Or EBV RNA (EBER)- or viral protein-positive cells in T- or NK-cells of affected tissues.<ref name=":5">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref><ref name=":0">{{Cite journal|title=BlueBooksOnline|url=https://tumourclassification.iarc.who.int/chapters/63}}</ref><ref name=":1">Arber DA, Borowitz MJ, Cook JR, et al. ''The International Consensus Classification of Myeloid and Lymphoid Neoplasms''.; 2025.</ref>
 ** Using a double stain for B, T, or NK-cell markers and EBV is recommended.
 ==Familial Forms==
+Germline mutations have only rarely been detected in CAEBV<ref>{{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>
-* Germline mutations have only rarely been detected in CAEBV<ref>{{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>
 ==Additional Information==
 * CAEBV shows an increased prevalence in populations from Asia and Latin America, suggesting a potential for genetic polymorphisms in immune-modulating genes to play a role in disease pathogenesis.<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> <ref>{{Cite journal|last=Kimura|first=Hiroshi|date=2006|title=Pathogenesis of chronic active Epstein-Barr virus infection: is this an infectious disease, lymphoproliferative disorder, or immunodeficiency?|url=https://pubmed.ncbi.nlm.nih.gov/16791843|journal=Reviews in Medical Virology|volume=16|issue=4|pages=251–261|doi=10.1002/rmv.505|issn=1052-9276|pmid=16791843}}</ref>
-* EBV clonality testing showed monoclonality (84%), oligoclonality (11%), or polyclonality (5%).<ref>{{Cite journal|last=Kimura|first=Hiroshi|last2=Ito|first2=Yoshinori|last3=Kawabe|first3=Shinji|last4=Gotoh|first4=Kensei|last5=Takahashi|first5=Yoshiyuki|last6=Kojima|first6=Seiji|last7=Naoe|first7=Tomoki|last8=Esaki|first8=Shinichi|last9=Kikuta|first9=Atsushi|date=2012-01-19|title=EBV-associated T/NK-cell lymphoproliferative diseases in nonimmunocompromised hosts: prospective analysis of 108 cases|url=https://pubmed.ncbi.nlm.nih.gov/22096243|journal=Blood|volume=119|issue=3|pages=673–686|doi=10.1182/blood-2011-10-381921|issn=1528-0020|pmid=22096243}}</ref> TCR clonality testing is described above (see gene rearrangements)
+* EBV clonality testing showed monoclonality (84%), oligoclonality (11%), or polyclonality (5%).<ref>{{Cite journal|last=Kimura|first=Hiroshi|last2=Ito|first2=Yoshinori|last3=Kawabe|first3=Shinji|last4=Gotoh|first4=Kensei|last5=Takahashi|first5=Yoshiyuki|last6=Kojima|first6=Seiji|last7=Naoe|first7=Tomoki|last8=Esaki|first8=Shinichi|last9=Kikuta|first9=Atsushi|date=2012-01-19|title=EBV-associated T/NK-cell lymphoproliferative diseases in nonimmunocompromised hosts: prospective analysis of 108 cases|url=https://pubmed.ncbi.nlm.nih.gov/22096243|journal=Blood|volume=119|issue=3|pages=673–686|doi=10.1182/blood-2011-10-381921|issn=1528-0020|pmid=22096243}}</ref>
+* TCR clonality testing is described above (see gene rearrangements)
 ==Links==