Compendium of Cancer Genome Aberrations

HAEM5:Splenic diffuse red pulp small 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:Splenic Diffuse Red Pulp Small 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:Splenic Diffuse Red Pulp Small B-cell Lymphoma]].
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*Snehal Patel, MD, PhD
*Snehal Patel, MD, PhD
__TOC__


==WHO Classification of Disease==
==WHO Classification of Disease==
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|}
|}


==Definition / Description of Disease==
==Related Terminology==
 
*Splenic diffuse red pulp small B-cell lymphoma (SDRPL) is an extremely rare indolent B-cell neoplasm of adults (provisional WHO entity)
*Name derives from diffuse involvement of the splenic red pulp by small mature-appearing B-cells
*Marked splenomegaly and marrow infiltration result in left flank discomfort, fatigue, and susceptibility to infections
 
==Synonyms / Terminology==
 
*Splenic marginal zone lymphoma, diffuse variant
*Splenic red pulp lymphoma with numerous basophilic villous lymphocytes
*Splenic lymphoma with villous lymphocytes
 
==Epidemiology / Prevalence==
 
 
*<1% of all non-Hodgkin lymphomas
*Median age ~ 66 to 80 years
*M:F 1.8:1 to  2.4:1
 
 
<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=":0">{{Cite journal|last=T|first=Vig|last2=Ta|first2=Kodiatte|last3=Mt|first3=Manipadam|last4=Fn|first4=Aboobacker|date=2018|title=A Rare Case of Splenic Diffuse Red Pulp Small B-cell Lymphoma (SDRPL): A Review of the Literature on Primary Splenic Lymphoma With Hairy Cells|url=https://pubmed.ncbi.nlm.nih.gov/29662866/|language=en|doi=10.5045/br.2018.53.1.74|pmc=PMC5898999|pmid=29662866}}</ref><ref name=":1">{{Cite journal|last=J|first=Tóth-Lipták|last2=K|first2=Piukovics|last3=Z|first3=Borbényi|last4=J|first4=Demeter|last5=E|first5=Bagdi|last6=L|first6=Krenács|date=2015|title=A Comprehensive Immunophenotypic Marker Analysis of Hairy Cell Leukemia in Paraffin-Embedded Bone Marrow Trephine Biopsies--A Tissue Microarray Study|url=https://pubmed.ncbi.nlm.nih.gov/24903677/|language=en|pmid=24903677}}</ref><ref name=":3">{{Cite journal|last=L|first=Jallades|last2=L|first2=Baseggio|last3=P|first3=Sujobert|last4=S|first4=Huet|last5=K|first5=Chabane|last6=E|first6=Callet-Bauchu|last7=A|first7=Verney|last8=S|first8=Hayette|last9=Jp|first9=Desvignes|date=2017|title=Exome Sequencing Identifies Recurrent BCOR Alterations and the Absence of KLF2, TNFAIP3 and MYD88 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/28751561/|language=en|doi=10.3324/haematol.2016.160192|pmc=PMC5622860|pmid=28751561}}</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/or discomfort
*Fatigue
*B-symptoms - weight loss, fever, night sweats (variable)
*Lymphadenopathy (uncommon)
 
'''Laboratory findings'''
 
*Cytopenias (uncommon)
*Lymphocytosis (moderate)
*No monocytopenia
 
 
<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=":0" /><ref name=":2">{{Cite journal|last=Wy|first=Cheng|last2=Ym|first2=Zhu|last3=S|first3=Cheng|last4=Ys|first4=Chen|last5=Y|first5=Shen|date=2018|title=Development of B-cell Prolymphocytic Leukemia in a Patient With Splenic Diffuse Red Pulp Small B-cell Lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/29199492/|language=en|pmid=29199492}}</ref><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 (red pulp)
*Bone marrow (sinusoidal > interstitial)
*Blood
*Liver
*Lymph node (uncommon)
 
 
<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=":0" /><blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Morphologic Features==
 
 
*Monomorphic small lymphocytes
*Villous projections
*Scant cytoplasm
*Condensed chromatin
*Smooth nuclear contours
*Inconspicuous nucleoli
*Involvement of red pulp (cords & sinusoids)
*Residual white pulp
*No/minimal reticulin fibrosis
 


<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=":0" /><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, CD79a, CD79b, PAX5, FMC7, sIg (monotypic), IgG
|-
|Positive||DBA-44, BCL2 (weak), CD11c*
|-
|Negative||CD5, CD10, CD23, BCL1, BCL6
|-
|Negative (HCL markers)||CD25, CD43, CD103 (variable), CD123, CD138, CD200, annexin A1, TRAP
|-
|MIB-1 proliferative index
|2-4%
|}
<nowiki>*</nowiki>Reports of CD11c expression are conflicting in the literature.
<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=":0" /><ref name=":1" /><ref name=":2" /><ref>{{Cite journal|last=Y|first=Yamada|last2=M|first2=Miura|last3=M|first3=Tagari|last4=K|first4=Oshimi|last5=T|first5=Shiragata|last6=W|first6=Suga|last7=T|first7=Takahashi|last8=K|first8=Shimizu|last9=K|first9=Ohshima|date=2018|title=[Splenic Diffuse Red Pulp Small B-cell Lymphoma Diagnosed by Splenectomy Initially Mimicking Hairy Cell leukemia-Japanese Variant]|url=https://pubmed.ncbi.nlm.nih.gov/29618685/|language=en|pmid=29618685}}</ref><ref>{{Cite journal|last=G|first=Kanellis|last2=M|first2=Mollejo|last3=S|first3=Montes-Moreno|last4=Sm|first4=Rodriguez-Pinilla|last5=Jc|first5=Cigudosa|last6=P|first6=Algara|last7=C|first7=Montalban|last8=E|first8=Matutes|last9=A|first9=Wotherspoon|date=2010|title=Splenic diffuse red pulp small B-cell lymphoma: revision of a series of cases reveals characteristic clinico-pathological features|url=https://pubmed.ncbi.nlm.nih.gov/20220064/|language=en|doi=10.3324/haematol.2009.013714|pmc=PMC2895036|pmid=20220064}}</ref><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 B-cell lymphoma/leukaemia, unclassifiable; splenic red pulp lymphoma with numerous basophilic villous lymphocytes; splenic marginal zone B-cell lymphoma with villous lymphocytes; splenic lymphoma with villous lymphocytes; splenic marginal zone lymphoma, diffuse variant; prolymphocytic variant of hairy cell leukaemia
|}
|}


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<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
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*No consistent gene fusion
*No consistent gene fusion
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<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
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|BRAF p.Val600Glu
|BRAF p.Val600Glu
|Possible role in diagnosis (exclusion)
|Possible role in diagnosis (exclusion)
|Prevalent in [[HAEM5:Hairy cell leukaemia|HCL]] but rare/absent in SDRPL<ref name=":3" />
|Prevalent in [[HAEM5:Hairy cell leukaemia|HCL]] but rare/absent in SDRPL<ref name=":3">{{Cite journal|last=L|first=Jallades|last2=L|first2=Baseggio|last3=P|first3=Sujobert|last4=S|first4=Huet|last5=K|first5=Chabane|last6=E|first6=Callet-Bauchu|last7=A|first7=Verney|last8=S|first8=Hayette|last9=Jp|first9=Desvignes|date=2017|title=Exome Sequencing Identifies Recurrent BCOR Alterations and the Absence of KLF2, TNFAIP3 and MYD88 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/28751561/|language=en|doi=10.3324/haematol.2016.160192|pmc=PMC5622860|pmid=28751561}}</ref>
|-
|-
|MAP2K1
|MAP2K1
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{| 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>
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|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
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*In a study of 13 cases, 10q23, 14q31-q32, and 17p13 deletions in 3 cases; 9p21 deletions in 2 cases; 7q31.3-q32.3 deletion in 1 case; no trisomies 3 or 18<ref name=":4" />
*In a study of 13 cases, 10q23, 14q31-q32, and 17p13 deletions in 3 cases; 9p21 deletions in 2 cases; 7q31.3-q32.3 deletion in 1 case; no trisomies 3 or 18<ref name=":4" />
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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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|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
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*BCOR copy number loss in 10% and often with BCOR point mutations<ref name=":3" />
*BCOR copy number loss in 10% and often with BCOR point mutations<ref name=":3" />
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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.


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


<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
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{| class="wikitable"
{| class="wikitable"
!Molecular feature
!Molecular feature
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(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==
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<nowiki>*</nowiki>''Citation of this Page'': “Splenic diffuse red pulp small B-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Splenic_diffuse_red_pulp_small_B-cell_lymphoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Splenic diffuse red pulp small B-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Splenic_diffuse_red_pulp_small_B-cell_lymphoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases S]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases S]]
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