Compendium of Cancer Genome Aberrations

HAEM5:ALK-positive large B-cell lymphoma: 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:ALK-Positive Large B-cell Lymphoma]].
<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:ALK-Positive Large B-cell Lymphoma]].
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Fabiola Quintero-Rivera, MD, FACMG (University of California, Irvine)
Fabiola Quintero-Rivera, MD, FACMG (University of California, Irvine)
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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==Definition / Description of Disease==
==Related Terminology==
 
Diffuse, monomorphic neoplasm of large B-cells with a plasmablastic immunophenotype and ALK expression due to ''ALK'' rearrangement
 
==Synonyms / Terminology==
 
Not recommended: ALK-positive plasmablastic B-cell lymphoma; ALK-positive diffuse large B-cell lymphoma
 
==Epidemiology / Prevalence==
 
*<1% of large B-cell lymphomas
**~ 200 cases reported in literature to date<ref>{{Cite journal|last=Castillo|first=Jorge J.|last2=Beltran|first2=Brady E.|last3=Malpica|first3=Luis|last4=Marques-Piubelli|first4=Mario L.|last5=Miranda|first5=Roberto N.|date=2021-12|title=Anaplastic lymphoma kinase-positive large B-cell lymphoma (ALK + LBCL): a systematic review of clinicopathological features and management|url=https://pubmed.ncbi.nlm.nih.gov/34151703|journal=Leukemia & Lymphoma|volume=62|issue=12|pages=2845–2853|doi=10.1080/10428194.2021.1941929|issn=1029-2403|pmid=34151703}}</ref>
 
*Range: 9-85 years; median: ~ 40 years<ref>{{Cite journal|last=Pan|first=Zenggang|last2=Hu|first2=Shimin|last3=Li|first3=Min|last4=Zhou|first4=Yi|last5=Kim|first5=Young S.|last6=Reddy|first6=Vishnu|last7=Sanmann|first7=Jennifer N.|last8=Smith|first8=Lynette M.|last9=Chen|first9=Mingyi|date=2017-01|title=ALK-positive Large B-cell Lymphoma: A Clinicopathologic Study of 26 Cases With Review of Additional 108 Cases in the Literature|url=https://pubmed.ncbi.nlm.nih.gov/27740969|journal=The American Journal of Surgical Pathology|volume=41|issue=1|pages=25–38|doi=10.1097/PAS.0000000000000753|issn=1532-0979|pmid=27740969}}</ref><ref>{{Cite journal|last=Castillo|first=Jorge J.|last2=Beltran|first2=Brady E.|last3=Malpica|first3=Luis|last4=Marques-Piubelli|first4=Mario L.|last5=Miranda|first5=Roberto N.|date=2021-12|title=Anaplastic lymphoma kinase-positive large B-cell lymphoma (ALK + LBCL): a systematic review of clinicopathological features and management|url=https://pubmed.ncbi.nlm.nih.gov/34151703|journal=Leukemia & Lymphoma|volume=62|issue=12|pages=2845–2853|doi=10.1080/10428194.2021.1941929|issn=1029-2403|pmid=34151703}}</ref>
*Male to Female ratio: 3-4:1<ref>{{Cite journal|last=Sukswai|first=Narittee|last2=Lyapichev|first2=Kirill|last3=Khoury|first3=Joseph D.|last4=Medeiros|first4=L. Jeffrey|date=2020-01|title=Diffuse large B-cell lymphoma variants: an update|url=https://pubmed.ncbi.nlm.nih.gov/31735345|journal=Pathology|volume=52|issue=1|pages=53–67|doi=10.1016/j.pathol.2019.08.013|issn=1465-3931|pmid=31735345}}</ref><ref>{{Cite journal|last=Castillo|first=Jorge J.|last2=Beltran|first2=Brady E.|last3=Malpica|first3=Luis|last4=Marques-Piubelli|first4=Mario L.|last5=Miranda|first5=Roberto N.|date=2021-12|title=Anaplastic lymphoma kinase-positive large B-cell lymphoma (ALK + LBCL): a systematic review of clinicopathological features and management|url=https://pubmed.ncbi.nlm.nih.gov/34151703|journal=Leukemia & Lymphoma|volume=62|issue=12|pages=2845–2853|doi=10.1080/10428194.2021.1941929|issn=1029-2403|pmid=34151703}}</ref>


==Clinical Features==
{| class="wikitable"
|'''Signs and Symptoms'''
|Asymptomatic lymphadenopathy
B-symptoms
|-
|'''Laboratory Findings'''
|Serum LDH elevation
|}
==Sites of Involvement==
*Lymph nodes are most commonly involved (~ 75%)
*Extranodal sites: bone marrow, GI tract, liver, epidural space, ovaries, skeletal system, nasopharyngeal/nasal area, tongue, and brain<ref>{{Cite journal|last=Morgan|first=Elizabeth A.|last2=Nascimento|first2=Alessandra F.|date=2012|title=Anaplastic lymphoma kinase-positive large B-cell lymphoma: an underrecognized aggressive lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/22474449|journal=Advances in Hematology|volume=2012|pages=529572|doi=10.1155/2012/529572|issn=1687-9112|pmc=3299366|pmid=22474449}}</ref><ref>{{Cite journal|last=Pan|first=Zenggang|last2=Hu|first2=Shimin|last3=Li|first3=Min|last4=Zhou|first4=Yi|last5=Kim|first5=Young S.|last6=Reddy|first6=Vishnu|last7=Sanmann|first7=Jennifer N.|last8=Smith|first8=Lynette M.|last9=Chen|first9=Mingyi|date=2017-01|title=ALK-positive Large B-cell Lymphoma: A Clinicopathologic Study of 26 Cases With Review of Additional 108 Cases in the Literature|url=https://pubmed.ncbi.nlm.nih.gov/27740969|journal=The American Journal of Surgical Pathology|volume=41|issue=1|pages=25–38|doi=10.1097/PAS.0000000000000753|issn=1532-0979|pmid=27740969}}</ref><ref>{{Cite journal|last=Laurent|first=Camille|last2=Do|first2=Catherine|last3=Gascoyne|first3=Randy D.|last4=Lamant|first4=Laurence|last5=Ysebaert|first5=Loïc|last6=Laurent|first6=Guy|last7=Delsol|first7=Georges|last8=Brousset|first8=Pierre|date=2009-09-01|title=Anaplastic lymphoma kinase-positive diffuse large B-cell lymphoma: a rare clinicopathologic entity with poor prognosis|url=https://pubmed.ncbi.nlm.nih.gov/19636007|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=27|issue=25|pages=4211–4216|doi=10.1200/JCO.2008.21.5020|issn=1527-7755|pmid=19636007}}</ref>
==Morphologic Features==
*Partial or diffuse effacement of lymph node architecture
*Lymphoma cells infiltrate sinusoids<ref>{{Cite journal|last=Pan|first=Zenggang|last2=Hu|first2=Shimin|last3=Li|first3=Min|last4=Zhou|first4=Yi|last5=Kim|first5=Young S.|last6=Reddy|first6=Vishnu|last7=Sanmann|first7=Jennifer N.|last8=Smith|first8=Lynette M.|last9=Chen|first9=Mingyi|date=2017-01|title=ALK-positive Large B-cell Lymphoma: A Clinicopathologic Study of 26 Cases With Review of Additional 108 Cases in the Literature|url=https://pubmed.ncbi.nlm.nih.gov/27740969|journal=The American Journal of Surgical Pathology|volume=41|issue=1|pages=25–38|doi=10.1097/PAS.0000000000000753|issn=1532-0979|pmid=27740969}}</ref><ref>{{Cite journal|last=Sukswai|first=Narittee|last2=Lyapichev|first2=Kirill|last3=Khoury|first3=Joseph D.|last4=Medeiros|first4=L. Jeffrey|date=2020-01|title=Diffuse large B-cell lymphoma variants: an update|url=https://pubmed.ncbi.nlm.nih.gov/31735345|journal=Pathology|volume=52|issue=1|pages=53–67|doi=10.1016/j.pathol.2019.08.013|issn=1465-3931|pmid=31735345}}</ref>
*Monomorphic infiltrate of large cells with abundant amphophilic or eosinophilic cytoplasm
==Immunophenotype==
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||ALK, CD138, VS38, IRF4/MUM1, BLIMP1, XBP1
|-
|Positive (subset)||EMA (90%), Cytoplasmic Ig (90%), IgA (80%), CD45 (90%), CD30 (15%), CD4 (50%), CD57 (10%), CD43, Cytokeratin (10%)
|-
|Negative (universal)||Pan-T cell antigens, CD8, B-cell antigens, CD10, BCL-6, Cyclin-D1, HHV8
|}
==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
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|ALK-positive plasmablastic B-cell lymphoma; ALK-positive diffuse large B-cell lymphoma (obsolete)
|}
|}


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<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>


{| class="wikitable sortable"
{| class="wikitable sortable"
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{| class="wikitable sortable"
|-
|-
!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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<blockquote class='blockedit'>{{Box-round|title=v4:Individual Region Genomic Gain/Loss/LOH|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Individual Region Genomic Gain/Loss/LOH|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>


Gains or amplifications of ''MYC'' (~50% of cases)<ref>{{Cite journal|last=Valera|first=Alexandra|last2=Colomo|first2=Lluis|last3=Martínez|first3=Antonio|last4=de Jong|first4=Daphne|last5=Balagué|first5=Olga|last6=Matheu|first6=Gabriel|last7=Martínez|first7=Mónica|last8=Taddesse-Heath|first8=Lekidelu|last9=Jaffe|first9=Elaine S.|date=2013-10|title=ALK-positive large B-cell lymphomas express a terminal B-cell differentiation program and activated STAT3 but lack MYC rearrangements|url=https://pubmed.ncbi.nlm.nih.gov/23599149|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=26|issue=10|pages=1329–1337|doi=10.1038/modpathol.2013.73|issn=1530-0285|pmc=6368829|pmid=23599149}}</ref>
Gains or amplifications of ''MYC'' (~50% of cases)<ref>{{Cite journal|last=Valera|first=Alexandra|last2=Colomo|first2=Lluis|last3=Martínez|first3=Antonio|last4=de Jong|first4=Daphne|last5=Balagué|first5=Olga|last6=Matheu|first6=Gabriel|last7=Martínez|first7=Mónica|last8=Taddesse-Heath|first8=Lekidelu|last9=Jaffe|first9=Elaine S.|date=2013-10|title=ALK-positive large B-cell lymphomas express a terminal B-cell differentiation program and activated STAT3 but lack MYC rearrangements|url=https://pubmed.ncbi.nlm.nih.gov/23599149|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=26|issue=10|pages=1329–1337|doi=10.1038/modpathol.2013.73|issn=1530-0285|pmc=6368829|pmid=23599149}}</ref>
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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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N/A
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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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N/A
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<nowiki>*</nowiki>''Citation of this Page'': “ALK-positive large B-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:ALK-positive_large_B-cell_lymphoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “ALK-positive large B-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:ALK-positive_large_B-cell_lymphoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases A]]
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