Compendium of Cancer Genome Aberrations

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HAEM5:ALK-positive large B-cell lymphoma (view source)

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{{DISPLAYTITLE:ALK-positive large B-cell lymphoma}}
 
{{DISPLAYTITLE:ALK-positive large B-cell lymphoma}}
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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
    
{{Under Construction}}
 
{{Under Construction}}
   −
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|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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<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>
 
}}</blockquote>
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 +
<span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)</span>
 +
 
==Primary Author(s)*==
 
==Primary Author(s)*==
   Line 11: Line 14:     
Fabiola Quintero-Rivera, MD, FACMG (University of California, Irvine)
 
Fabiola Quintero-Rivera, MD, FACMG (University of California, Irvine)
 +
==WHO Classification of Disease==
   −
__TOC__
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{| class="wikitable"
 +
!Structure
 +
!Disease
 +
|-
 +
|Book
 +
|Haematolymphoid Tumours (5th ed.)
 +
|-
 +
|Category
 +
|B-cell lymphoid proliferations and lymphomas
 +
|-
 +
|Family
 +
|Mature B-cell neoplasms
 +
|-
 +
|Type
 +
|Large B-cell lymphomas
 +
|-
 +
|Subtype(s)
 +
|ALK-positive large B-cell lymphoma
 +
|}
   −
==Cancer Category / Type==
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==WHO Essential and Desirable Genetic Diagnostic Criteria==
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<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>
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Mature B cell neoplasm
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{| class="wikitable"
−
 
+
|+
−
==Cancer Sub-Classification / Subtype==
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|WHO Essential Criteria (Genetics)*
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+
|
−
Large B-cell lymphomas
+
|-
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|WHO Desirable Criteria (Genetics)*
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==Definition / Description of Disease==
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|
−
 
+
|-
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Diffuse, monomorphic neoplasm of large B-cells with a plasmablastic immunophenotype and ALK expression due to ''ALK'' rearrangement
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|Other Classification
−
 
+
|
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==Synonyms / Terminology==
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|}
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<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>].
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Not recommended: ALK-positive plasmablastic B-cell lymphoma; ALK-positive diffuse large B-cell lymphoma
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==Related Terminology==
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<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
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==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"
 
{| class="wikitable"
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|'''Signs and Symptoms'''
+
|+
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|Asymptomatic lymphadenopathy
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|Acceptable
−
 
+
|
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B-symptoms
   
|-
 
|-
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|'''Laboratory Findings'''
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|Not Recommended
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|Serum LDH elevation
+
|
 
|}
 
|}
   −
==Sites of Involvement==
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==Gene Rearrangements==
   −
*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==
      +
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
−
!Finding!!Marker
+
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
 +
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
 +
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
 +
!Established Clinical Significance Per Guidelines - Yes or No (Source)
 +
!Clinical Relevance Details/Other Notes
 
|-
 
|-
−
|Positive (universal)||ALK, CD138, VS38, IRF4/MUM1, BLIMP1, XBP1
+
|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
 +
|<span class="blue-text">EXAMPLE:</span> Common (CML)
 +
|<span class="blue-text">EXAMPLE:</span> D, P, T
 +
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
 +
|<span class="blue-text">EXAMPLE:</span>
 +
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
 
|-
 
|-
−
|Positive (subset)||EMA (90%), Cytoplasmic Ig (90%), IgA (80%), CD45 (90%), CD30 (15%), CD4 (50%), CD57 (10%), CD43, Cytokeratin (10%)
+
|<span class="blue-text">EXAMPLE:</span> ''CIC''
 +
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
 +
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
 +
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
 +
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
 +
|<span class="blue-text">EXAMPLE:</span> D
 +
|
 +
|<span class="blue-text">EXAMPLE:</span>
 +
 
 +
''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
 
|-
 
|-
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|Negative (universal)||Pan-T cell antigens, CD8, B-cell antigens, CD10, BCL-6, Cyclin-D1, HHV8
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|<span class="blue-text">EXAMPLE:</span> ''ALK''
−
|}
+
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
   −
==Chromosomal Rearrangements (Gene Fusions)==
     −
Put your text here and fill in the table
+
Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
 +
|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
 +
|<span class="blue-text">EXAMPLE:</span> N/A
 +
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
 +
|<span class="blue-text">EXAMPLE:</span> T
 +
|
 +
|<span class="blue-text">EXAMPLE:</span>
   −
{| class="wikitable sortable"
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Both balanced and unbalanced forms are observed by FISH (add references).
 
|-
 
|-
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!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
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|<span class="blue-text">EXAMPLE:</span> ''ABL1''
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!Diagnostic Significance (Yes, No or Unknown)
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|<span class="blue-text">EXAMPLE:</span> N/A
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!Prognostic Significance (Yes, No or Unknown)
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|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
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!Therapeutic Significance (Yes, No or Unknown)
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|<span class="blue-text">EXAMPLE:</span> N/A
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!Notes
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|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
 +
|<span class="blue-text">EXAMPLE:</span> D, P, T
 +
|
 +
|
 
|-
 
|-
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|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
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|
−
EXAMPLE 30% (add reference)
+
|
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|Yes
+
|
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|No
+
|
−
|Yes
+
|
−
|EXAMPLE
+
|
−
 
+
|
−
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
+
|
−
|}
+
|}
−
     −
<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="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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|}
 
|}
 
 
 +
<blockquote class="blockedit">
 +
<center><span style="color:Maroon">'''End of V4 Section'''</span>
 +
----
 
</blockquote>
 
</blockquote>
−
==Individual Region Genomic Gain / Loss / LOH==
+
==Individual Region Genomic Gain/Loss/LOH==
   −
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span>
      +
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
−
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
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!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
−
!Diagnostic Significance (Yes, No or Unknown)
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!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
−
!Prognostic Significance (Yes, No or Unknown)
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!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
−
!Therapeutic Significance (Yes, No or Unknown)
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!'''Clinical Relevance Details/Other Notes'''
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!Notes
   
|-
 
|-
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
−
 
   
7
 
7
−
|EXAMPLE Loss
+
|<span class="blue-text">EXAMPLE:</span> Loss
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
−
 
  −
chr7:1- 159,335,973 [hg38]
  −
|EXAMPLE
  −
 
   
chr7
 
chr7
−
|Yes
+
|<span class="blue-text">EXAMPLE:</span>
−
|Yes
+
Unknown
−
|No
+
|<span class="blue-text">EXAMPLE:</span> D, P
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span> No
−
 
+
|<span class="blue-text">EXAMPLE:</span>
−
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
+
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
 
|-
 
|-
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
−
 
   
8
 
8
−
|EXAMPLE Gain
+
|<span class="blue-text">EXAMPLE:</span> Gain
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
−
 
  −
chr8:1-145,138,636 [hg38]
  −
|EXAMPLE
  −
 
   
chr8
 
chr8
−
|No
+
|<span class="blue-text">EXAMPLE:</span>
−
|No
+
Unknown
−
|No
+
|<span class="blue-text">EXAMPLE:</span> D, P
−
|EXAMPLE
+
|
−
 
+
|<span class="blue-text">EXAMPLE:</span>
−
Common recurrent secondary finding for t(8;21) (add reference).
+
Common recurrent secondary finding for t(8;21) (add references).
 +
|-
 +
|<span class="blue-text">EXAMPLE:</span>
 +
17
 +
|<span class="blue-text">EXAMPLE:</span> Amp
 +
|<span class="blue-text">EXAMPLE:</span>
 +
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
 +
|<span class="blue-text">EXAMPLE:</span>
 +
''ERBB2''
 +
|<span class="blue-text">EXAMPLE:</span> D, P, T
 +
|
 +
|<span class="blue-text">EXAMPLE:</span>
 +
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
 +
|-
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 
|}
 
|}
   −
<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 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>
 +
<blockquote class="blockedit">
 +
<center><span style="color:Maroon">'''End of V4 Section'''</span>
 +
----
 
</blockquote>
 
</blockquote>
−
==Characteristic Chromosomal Patterns==
+
==Characteristic Chromosomal or Other Global Mutational Patterns==
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Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis'')</span>
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Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
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!Chromosomal Pattern
 
!Chromosomal Pattern
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!Diagnostic Significance (Yes, No or Unknown)
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!Molecular Pathogenesis
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!Prognostic Significance (Yes, No or Unknown)
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!'''Prevalence -'''
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!Therapeutic Significance (Yes, No or Unknown)
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'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
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!Notes
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!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
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!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
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!'''Clinical Relevance Details/Other Notes'''
 
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|EXAMPLE
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|<span class="blue-text">EXAMPLE:</span>
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Co-deletion of 1p and 18q
 
Co-deletion of 1p and 18q
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|Yes
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|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
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|No
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|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
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|No
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|<span class="blue-text">EXAMPLE:</span> D, P
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|EXAMPLE:
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See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
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|<span class="blue-text">EXAMPLE:</span>
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Microsatellite instability - hypermutated
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|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
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|<span class="blue-text">EXAMPLE:</span> P, T
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<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Patterns|The content below was from the previous version of the page. Please incorporate above.}}
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<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Patterns|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
 
N/A
 
N/A
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<blockquote class="blockedit">
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<center><span style="color:Maroon">'''End of V4 Section'''</span>
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</blockquote>
 
</blockquote>
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==Gene Mutations (SNV / INDEL)==
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==Gene Mutations (SNV/INDEL)==
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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 and common as well either disease defining and/or clinically significant. Can include references 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.'') </span>
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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>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
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!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
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!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
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!'''Diagnostic Significance (Yes, No or Unknown)'''
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'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
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!Prognostic Significance (Yes, No or Unknown)
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!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
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!Therapeutic Significance (Yes, No or Unknown)
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!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
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!Notes
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!'''Clinical Relevance Details/Other Notes'''
 
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|EXAMPLE: TP53; Variable LOF mutations
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|<span class="blue-text">EXAMPLE:</span>''EGFR''
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EXAMPLE:
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<br />
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|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
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EGFR; Exon 20 mutations
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|<span class="blue-text">EXAMPLE:</span> Oncogene
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|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
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EXAMPLE: BRAF; Activating mutations
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|<span class="blue-text">EXAMPLE:</span> T
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|EXAMPLE: TSG
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|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
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|EXAMPLE: 20% (COSMIC)
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|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
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EXAMPLE: 30% (add Reference)
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|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
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|EXAMPLE: IDH1 R123H
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<br />
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|EXAMPLE: EGFR amplification
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|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
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|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
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|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
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|<span class="blue-text">EXAMPLE:</span> P
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|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
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|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
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|<span class="blue-text">EXAMPLE:</span> Activating mutations
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|<span class="blue-text">EXAMPLE:</span> Oncogene
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|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
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|<span class="blue-text">EXAMPLE:</span> T
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
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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.
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Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
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<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV / INDEL)|The content below was from the previous version of the page. Please incorporate above.}}
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<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
 
N/A
 
N/A
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<blockquote class="blockedit">
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<center><span style="color:Maroon">'''End of V4 Section'''</span>
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</blockquote>
 
</blockquote>
 
==Epigenomic Alterations==
 
==Epigenomic Alterations==
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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>.
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[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]]
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[[Category:HAEM5]]
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[[Category:DISEASE]]
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[[Category:Diseases A]]
Retrieved from "https://ccga.io/index.php/Special:MobileDiff/13485...16583"