HAEM5:Splenic marginal zone lymphoma: Difference between revisions

[unchecked revision][unchecked revision]
No edit summary
 
(8 intermediate revisions by 2 users not shown)
Line 1: Line 1:
{{DISPLAYTITLE:Splenic marginal zone lymphoma}}
{{DISPLAYTITLE:Splenic marginal zone lymphoma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


{{Under Construction}}
{{Under Construction}}


<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:Splenic Marginal Zone 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:Splenic Marginal Zone Lymphoma]].
}}</blockquote>
}}</blockquote>


Line 10: Line 11:


==Primary Author(s)*==
==Primary Author(s)*==
 
Madhu Pantrangi, Weill Cornell Medical Center
*Snehal Patel, MD, PhD
__TOC__


==WHO Classification of Disease==
==WHO Classification of Disease==
Line 36: Line 35:
|}
|}


==Definition / Description of Disease==
==Related Terminology==
 
*Indolent mature B-cell neoplasm of adults involving the spleen, blood, and bone marrow
*Splenic white pulp effacement by small lymphocytes and pale marginal zone involved by larger cells
*Likely originating from mature B-cells of the marginal zone
*The synonyms derive from circulating lymphocytes with cytoplasmic villous projections
 
==Synonyms / Terminology==
 
*Splenic B-cell marginal zone lymphoma
*Splenic lymphoma with villous lymphocytes
*Splenic lymphoma with circulating villous lymphocytes
 
==Epidemiology / Prevalence==
 
 
*1 to 2% of lymphoid neoplasms
*Median age: mid to late 60's
*Males ~ Females
 
 
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":2" /><ref name=":6">{{Cite journal|last=Tsd|first=Santos|last2=Rs|first2=Tavares|last3=Dlc|first3=Farias|date=2017|title=Splenic Marginal Zone Lymphoma: A Literature Review of Diagnostic and Therapeutic Challenges|url=https://pubmed.ncbi.nlm.nih.gov/28577652/|language=en|doi=10.1016/j.bjhh.2016.09.014|pmc=PMC5457460|pmid=28577652}}</ref><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Clinical Features==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
 
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
 
<span class="blue-text">EXAMPLE:</span> Fatigue
 
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
 
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
 
 
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
 
'''Signs & Symptoms'''
 
*Splenic enlargement and discomfort
*Lymphadenopathy (rare)
*Autoimmune hemolytic anemia or thrombocytopenia
*Association with Hepatitis C virus
 
'''Laboratory findings'''
 
*Cytopenias
*Lymphocytosis (low level)
*Small paraprotein
 
 
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":2" /><ref name=":6" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>
==Sites of Involvement==
 
 
*Spleen (white pulp)
*Perihilar lymph nodes
*Blood
*Bone marrow
*liver (less common)
*peripheral lymph nodes (rare)
 
 
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":2" /><ref name=":6" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Morphologic Features==
 
 
*Marked expansion splenic white pulp by neoplastic B-cells
*Effacement of mantle zone and germinal center by small neoplastic B-cells
*Residual germinal centers may be present
*Small cells and large cells with more cytoplasm are seen in the marginal zone
*Neoplastic B-cells show cytoplasmic projections in smear preparations
 
 
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":2" /><ref name=":6" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Immunophenotype==
 
 
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (B-cell lineage markers)||CD19, CD20 (bright), CD22, PAX5, FMC7, sIg (bright, monotypic)
|-
|Positive (subset)||CD5, CD11c, CD70, CD103
|-
|Negative||CD10, CD21, CD35, CD42, CD123, BCL1, BCL6, SOX11, LEF1, IRTA1, BRAF V600E
|}


<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":2" /><ref name=":6" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==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
|
|Splenic lymphoma with villous lymphocytes
|}
|}


Line 241: Line 109:
|}
|}


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


*Rare but (some) recurrent translocations/gene fusions:
*Rare but (some) recurrent translocations/gene fusions:
Line 259: Line 127:




<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Individual Region Genomic Gain/Loss/LOH
Line 309: Line 177:
{| class="wikitable sortable"
{| 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>
Line 359: Line 227:
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>


{| class="wikitable sortable"
{| class="wikitable sortable"
Line 366: Line 234:
!Significance!!Prevalence
!Significance!!Prevalence
|-
|-
|7q31-32||Loss (heterozygous)
|7q22-36 (a minimal commonly deleted region has been
mapped to a 3Mb region at 7q32.1-32.2)
|Loss (heterozygous)
|Unknown; possible haploinsufficiency of IRF5 tumor suppressor<ref>{{Cite journal|last=Fresquet|first=Vicente|last2=Robles|first2=Eloy F.|last3=Parker|first3=Anton|last4=Martinez-Useros|first4=Javier|last5=Mena|first5=Maria|last6=Malumbres|first6=Raquel|last7=Agirre|first7=Xabier|last8=Catarino|first8=Susana|last9=Arteta|first9=David|date=2012|title=High-throughput sequencing analysis of the chromosome 7q32 deletion reveals IRF5 as a potential tumour suppressor in splenic marginal-zone lymphoma|url=http://doi.wiley.com/10.1111/j.1365-2141.2012.09226.x|journal=British Journal of Haematology|language=en|volume=158|issue=6|pages=712–726|doi=10.1111/j.1365-2141.2012.09226.x}}</ref>||26–45%<ref name=":2">{{Cite journal|last=Salido|first=Marta|last2=Baró|first2=Cristina|last3=Oscier|first3=David|last4=Stamatopoulos|first4=Kostas|last5=Dierlamm|first5=Judith|last6=Matutes|first6=Estela|last7=Traverse-Glehen|first7=Alexandra|last8=Berger|first8=Francoise|last9=Felman|first9=Pascale|date=2010|title=Cytogenetic aberrations and their prognostic value in a series of 330 splenic marginal zone B-cell lymphomas: a multicenter study of the Splenic B-Cell Lymphoma Group|url=https://ashpublications.org/blood/article/116/9/1479/103841/Cytogenetic-aberrations-and-their-prognostic-value|journal=Blood|language=en|volume=116|issue=9|pages=1479–1488|doi=10.1182/blood-2010-02-267476|issn=0006-4971}}</ref><ref name=":3">{{Cite journal|last=Baró|first=Cristina|last2=Salido|first2=Marta|last3=Espinet|first3=Blanca|last4=Astier|first4=Laura|last5=Domingo|first5=Alicia|last6=Granada|first6=Isabel|last7=Millà|first7=Fuensanta|last8=Carrió|first8=Ana|last9=Costa|first9=Dolors|date=2008|title=New chromosomal alterations in a series of 23 splenic marginal zone lymphoma patients revealed by Spectral Karyotyping (SKY)|url=https://linkinghub.elsevier.com/retrieve/pii/S0145212607003505|journal=Leukemia Research|language=en|volume=32|issue=5|pages=727–736|doi=10.1016/j.leukres.2007.09.012}}</ref><ref name=":4">{{Cite journal|last=Gruszka-Westwood|first=Alicja M.|last2=Hamoudi|first2=Rifat|last3=Osborne|first3=Lucy|last4=Matutes|first4=Estella|last5=Catovsky|first5=Daniel|date=2003|title=Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes|url=http://doi.wiley.com/10.1002/gcc.10142|journal=Genes, Chromosomes and Cancer|language=en|volume=36|issue=1|pages=57–69|doi=10.1002/gcc.10142|issn=1045-2257}}</ref>
|Unknown; possible haploinsufficiency of IRF5 tumor suppressor<ref>{{Cite journal|last=Fresquet|first=Vicente|last2=Robles|first2=Eloy F.|last3=Parker|first3=Anton|last4=Martinez-Useros|first4=Javier|last5=Mena|first5=Maria|last6=Malumbres|first6=Raquel|last7=Agirre|first7=Xabier|last8=Catarino|first8=Susana|last9=Arteta|first9=David|date=2012|title=High-throughput sequencing analysis of the chromosome 7q32 deletion reveals IRF5 as a potential tumour suppressor in splenic marginal-zone lymphoma|url=http://doi.wiley.com/10.1111/j.1365-2141.2012.09226.x|journal=British Journal of Haematology|language=en|volume=158|issue=6|pages=712–726|doi=10.1111/j.1365-2141.2012.09226.x}}</ref>||26–45%<ref name=":2">{{Cite journal|last=Salido|first=Marta|last2=Baró|first2=Cristina|last3=Oscier|first3=David|last4=Stamatopoulos|first4=Kostas|last5=Dierlamm|first5=Judith|last6=Matutes|first6=Estela|last7=Traverse-Glehen|first7=Alexandra|last8=Berger|first8=Francoise|last9=Felman|first9=Pascale|date=2010|title=Cytogenetic aberrations and their prognostic value in a series of 330 splenic marginal zone B-cell lymphomas: a multicenter study of the Splenic B-Cell Lymphoma Group|url=https://ashpublications.org/blood/article/116/9/1479/103841/Cytogenetic-aberrations-and-their-prognostic-value|journal=Blood|language=en|volume=116|issue=9|pages=1479–1488|doi=10.1182/blood-2010-02-267476|issn=0006-4971}}</ref><ref name=":3">{{Cite journal|last=Baró|first=Cristina|last2=Salido|first2=Marta|last3=Espinet|first3=Blanca|last4=Astier|first4=Laura|last5=Domingo|first5=Alicia|last6=Granada|first6=Isabel|last7=Millà|first7=Fuensanta|last8=Carrió|first8=Ana|last9=Costa|first9=Dolors|date=2008|title=New chromosomal alterations in a series of 23 splenic marginal zone lymphoma patients revealed by Spectral Karyotyping (SKY)|url=https://linkinghub.elsevier.com/retrieve/pii/S0145212607003505|journal=Leukemia Research|language=en|volume=32|issue=5|pages=727–736|doi=10.1016/j.leukres.2007.09.012}}</ref><ref name=":4">{{Cite journal|last=Gruszka-Westwood|first=Alicja M.|last2=Hamoudi|first2=Rifat|last3=Osborne|first3=Lucy|last4=Matutes|first4=Estella|last5=Catovsky|first5=Daniel|date=2003|title=Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes|url=http://doi.wiley.com/10.1002/gcc.10142|journal=Genes, Chromosomes and Cancer|language=en|volume=36|issue=1|pages=57–69|doi=10.1002/gcc.10142|issn=1045-2257}}</ref>
|-
|-
|3/3q||Gain (trisomy)
|3/3q||Gain (trisomy)
|Unknown||15%<ref name=":2" /><ref name=":4" /><ref name=":3" />
|Unknown||15%<ref name=":2" /><ref name=":4" /><ref name=":3" />
|-
|17p13(TP53)
|Loss
|
|3%-17%
|}
|}
Line 385: Line 260:
!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>
Line 415: Line 290:
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>


*Ig gene rearrangements
*Ig gene rearrangements
Line 429: Line 304:
{| 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''
Line 471: Line 346:
|}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.


<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>


{| class="wikitable sortable"
{| class="wikitable sortable"
Line 582: Line 457:
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
{| class="wikitable"
{| class="wikitable"
!Molecular Feature
!Molecular Feature
Line 632: Line 507:
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />


'''
<br />


==Notes==
==Notes==
Line 638: Line 513:


Prior Author(s):   
Prior Author(s):   
Snehal Patel, MD, PhD


          
          
<nowiki>*</nowiki>''Citation of this Page'': “Splenic marginal zone lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Splenic_marginal_zone_lymphoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Splenic marginal zone lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Splenic_marginal_zone_lymphoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases S]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases S]]