Compendium of Cancer Genome Aberrations

HAEM5:KSHV/HHV8-associated multicentric Castleman disease: Difference between revisions

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<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Multicentric Castleman Disease]].
<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Multicentric Castleman Disease]].
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Sudha Arumugam, MD
Sudha Arumugam, MD
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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==Definition / Description of Disease==
==Related Terminology==
 
Castleman disease was initially described in 1956 by Castleman ''et al'', who reported on 13 cases of localized mediastinal lymphoid proliferations in asymptomatic patients.<ref>{{Cite journal|last=Castleman|first=Benjamin|last2=Iverson|first2=Lalla|last3=Menendez|first3=V. Pardo|date=1956-07|title=Localized mediastinal lymph-node hyperplasia resembling thymoma|url=http://dx.doi.org/10.1002/1097-0142(195607/08)9:4<822::aid-cncr2820090430>3.0.co;2-4|journal=Cancer|volume=9|issue=4|pages=822–830|doi=10.1002/1097-0142(195607/08)9:4<822::aid-cncr2820090430>3.0.co;2-4|issn=0008-543X}}</ref> It is now recognized that there are different morphologic variants (hyaline vascular, plasma cell/plasmablastic, and mixed or transitional) as well as clinical forms (unicentric and multicentric) classified under the broad clinicopathologic syndrome termed Castleman disease.<ref name=":0">{{Cite journal|last=Chadburn|first=Amy|last2=Said|first2=Jonathan|last3=Gratzinger|first3=Dita|last4=Chan|first4=John K. C.|last5=de Jong|first5=Daphne|last6=Jaffe|first6=Elaine S.|last7=Natkunam|first7=Yasodha|last8=Goodlad|first8=John R.|date=2017-02|title=HHV8/KSHV-Positive Lymphoproliferative Disorders and the Spectrum of Plasmablastic and Plasma Cell Neoplasms|url=https://academic.oup.com/ajcp/article-lookup/doi/10.1093/ajcp/aqw218|journal=American Journal of Clinical Pathology|language=en|volume=147|issue=2|pages=171–187|doi=10.1093/ajcp/aqw218|issn=0002-9173}}</ref> Multicentric Castleman Disease is a rare clinicopathologic entity encompassing a group of systemic polyclonal lymphoproliferative disorders. It belongs to the spectrum of HHV8-associated lymphoproliferative disorders in which there is a proliferation of morphologically benign lymphocytes, plasma cells, and vessels due to excessive production of cytokines, IL6 features prominently amongst these.<ref name=":1">{{Cite journal|last=Swerdlow|first=Steven H.|last2=Campo|first2=Elias|last3=Pileri|first3=Stefano A.|last4=Harris|first4=Nancy Lee|last5=Stein|first5=Harald|last6=Siebert|first6=Reiner|last7=Advani|first7=Ranjana|last8=Ghielmini|first8=Michele|last9=Salles|first9=Gilles A.|date=2016-05-19|title=The 2016 revision of the World Health Organization classification of lymphoid neoplasms|url=http://dx.doi.org/10.1182/blood-2016-01-643569|journal=Blood|volume=127|issue=20|pages=2375–2390|doi=10.1182/blood-2016-01-643569|issn=0006-4971}}</ref>Multicentric Castleman disease is idiopathic in HIV-negative and HHV8-negative patients.
 
==Synonyms / Terminology==
 
Angio follicular lymph-node hyperplasia
 
Giant node hyperplasia


==Epidemiology / Prevalence==
HHV8 Positive Multicentric Castleman Disease occurs in immunosuppressed patients across all ethnic groups, particularly in association with HIV/AIDS. <ref name=":1" /> Immunocompetent individuals may be affected with the disease in HHV8 endemic areas such as sub-Saharan Africa and Mediterranean countries. In cases where HIV was acquired via sexual transmission, there is a strong association with the development of HHV8-positive MCD, men are predominantly affected.
==Clinical Features==
<br />
{| class="wikitable"
|'''Signs and Symptoms'''
|Progressive lymphadenopathy
Splenomegaly or hepatosplenomegaly
Fever
Night sweats
Fatigue
Weight loss
Respiratory symptoms
Coincident Kaposi Sarcoma or HHV8-positive diffuse large B-cell lymphoma
Skin rash
|-
|'''Laboratory Findings'''
|Anemia
Thrombocytopenia
Hypoalbuminemia
Hypogammaglobinemia
Elevated C-reactive protein
|}
==Sites of Involvement==
Multicentric Castleman Disease affects multiple lymph node sites, predominantly in the cervical region and commonly involves the spleen.<ref name=":2">Balakrishna J. Castleman disease. PathologyOutlines.com website.<nowiki>https://www.pathologyoutlines.com/topic/lymphnodescastleman.html</nowiki>. Accessed November 24th, 2021. </ref>
==Morphologic Features==
HHV8-infected plasmablasts are the characteristic features of HHV8 Multicentric Castleman disease.<ref name=":2" /> Plasmablasts are present in the lymph node and spleen.<ref name=":0" /> The B cell follicles of lymph nodes shows varying degree of hyalinization and involution of germinal centers with prominent mantle zones that may intrude and efface the germinal centers.<ref name=":1" /> Follicles may show onion skinning or widened concentric rings of mantle zone lymphocytes along with prominent penetrating venules, these findings are typical of Castleman disease.<ref name=":1" /> Variable numbers of medium to large plasmablasts with amphophilic cytoplasm and eccentrically placed nuclei can be found among the mantle zone cells and adjacent interfollicular regions.<ref name=":1" /> Sheets of mature plasma cells may be seen expanding the interfollicular region, some such cells may display cytoplasmic inclusions (Russell bodies) or crystalline forms.<ref name=":1" /> With disease progression, the plasmablasts increase in number and may coalesce to form clusters.<ref name=":1" /> If the disease proceeds to become HHV8-positive diffuse large B-cell lymphoma, NOS these clusters may expand clonally to form sheets of lymphoma cells that efface the normal follicular architecture.<ref name=":1" /> Plasmablastic aggregates that develop during disease progression may be oligoclonal or monoclonal.
==Immunophenotype==
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||HHV 8 LANA 1, strong c IgM expression with lambda light chain restriction, CD20+/-, CD 79a -/+ <ref name=":1" />
|-
|Positive (subset)||Viral IL-6 <ref name=":1" />
|-
|Negative (universal)||CD 138, PAX 5, CD38-/+, CD27, EBV encoded small RNA <ref name=":1" />
|-
|Negative (subset)||None
|}
==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|HHV8-positive multicentric Castleman disease
|-
|-
|Not Recommended
|Not Recommended
|
|Plasmablastic multicentric Castleman disease
|}
|}


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No known recurrent abnormalities  
No known recurrent abnormalities  
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{| class="wikitable sortable"
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|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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No known recurrent abnormalities  
No known recurrent abnormalities  
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
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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.


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No known recurrent abnormalities  
No known recurrent abnormalities  
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No known recurrent abnormalities  
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<nowiki>*</nowiki>''Citation of this Page'': “KSHV/HHV8-associated multicentric Castleman disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:KSHV/HHV8-associated_multicentric_Castleman_disease</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “KSHV/HHV8-associated multicentric Castleman disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:KSHV/HHV8-associated_multicentric_Castleman_disease</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases K]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases K]]
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