Difference between revisions of "HAEM5:Splenic diffuse red pulp small B-cell lymphoma"

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{{DISPLAYTITLE:Splenic diffuse red pulp small B-cell lymphoma}}
 
{{DISPLAYTITLE:Splenic diffuse red pulp small B-cell lymphoma}}
−
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
+
[[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 2023-11-30. 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]].
 
}}</blockquote>
 
}}</blockquote>
 +
 +
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], 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 to a table, click within the table and select the > symbol that appears to be given options. 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)*==
  
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__TOC__
 
__TOC__
  
−
==Cancer Category / Type==
+
==WHO Classification of Disease==
  
−
*[[Mature B-Cell Neoplasms|Mature B-Cell Neoplasm]]
+
{| class="wikitable"
−
 
+
!Structure
−
==Cancer Sub-Classification / Subtype==
+
!Disease
−
 
+
|-
−
*[[Splenic B-cell Lymphoma/Leukemia, Unclassifiable]]
+
|Book
 +
|Haematolymphoid Tumours (5th ed.)
 +
|-
 +
|Category
 +
|B-cell lymphoid proliferations and lymphomas
 +
|-
 +
|Family
 +
|Mature B-cell neoplasms
 +
|-
 +
|Type
 +
|Splenic B-cell lymphomas and leukaemias
 +
|-
 +
|Subtype(s)
 +
|Splenic diffuse red pulp small B-cell lymphoma
 +
|}
  
 
==Definition / Description of Disease==
 
==Definition / Description of Disease==
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==Clinical Features==
 
==Clinical Features==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
+
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"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
−
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
+
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
  
−
EXAMPLE B-symptoms (weight loss, fever, night sweats)
+
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
  
−
EXAMPLE Fatigue
+
<span class="blue-text">EXAMPLE:</span> Fatigue
  
−
EXAMPLE Lymphadenopathy (uncommon)
+
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
 
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
−
|EXAMPLE Cytopenias
+
|<span class="blue-text">EXAMPLE:</span> Cytopenias
  
−
EXAMPLE Lymphocytosis (low level)
+
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
 
|}
 
|}
  
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
+
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
−
EXAMPLE 30% (add reference)
+
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
 
|Yes
 
|Yes
 
|No
 
|No
 
|Yes
 
|Yes
−
|EXAMPLE
+
|<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).
 
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).
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|BRAF p.Val600Glu
 
|BRAF p.Val600Glu
 
|Possible role in diagnosis (exclusion)
 
|Possible role in diagnosis (exclusion)
−
|Prevalent in [[Hairy Cell Leukemia|HCL]] but rare/absent in SDRPL<ref name=":3" />
+
|Prevalent in [[HAEM5:Hairy cell leukaemia|HCL]] but rare/absent in SDRPL<ref name=":3" />
 
|-
 
|-
 
|MAP2K1
 
|MAP2K1
 
|Possible role in diagnosis (exclusion)
 
|Possible role in diagnosis (exclusion)
−
|Prevalent in [[Hairy Cell Leukemia Variant|HCL-v]] and a subset of cases classified as [[Hairy Cell Leukemia|HCL]] but uncommon in SDRPL<ref name=":3" />
+
|Prevalent in [[HAEM5:Hairy cell leukaemia Variant|HCL-v]] and a subset of cases classified as [[HAEM5:Hairy cell leukaemia|HCL]] but uncommon in SDRPL<ref name=":3" />
 
|-
 
|-
 
|KLF2 and TNFAIP3
 
|KLF2 and TNFAIP3
 
|Possible role in diagnosis (exclusion)
 
|Possible role in diagnosis (exclusion)
−
|Prevalent in [[Splenic Marginal Zone Lymphoma|SMZL]] but rare/absent in SDRPL<ref name=":3" />
+
|Prevalent in [[HAEM5:Splenic marginal zone lymphoma|SMZL]] but rare/absent in SDRPL<ref name=":3" />
 
|-
 
|-
 
|MYD88
 
|MYD88
 
|Possible role in diagnosis (exclusion)
 
|Possible role in diagnosis (exclusion)
−
|Prevalent in [[Lymphoplasmacytic Lymphoma|LPL]] and [[Splenic Marginal Zone Lymphoma|SMZL]] but rare/absent in SDRPL<ref name=":3" />
+
|Prevalent in [[HAEM5:Lymphoplasmacytic lymphoma|LPL]] and [[HAEM5:Splenic marginal zone lymphoma|SMZL]] but rare/absent in SDRPL<ref name=":3" />
 
|-
 
|-
 
|BCOR
 
|BCOR
 
|Possible role in diagnosis (inclusion)
 
|Possible role in diagnosis (inclusion)
−
|Prevalent in SDRPL but rare/absent in [[Hairy Cell Leukemia|HCL]], [[Hairy Cell Leukemia Variant|HCL-v]], and [[Splenic Marginal Zone Lymphoma|SMZL]]<ref name=":3" />
+
|Prevalent in SDRPL but rare/absent in [[HAEM5:Hairy cell leukaemia|HCL]], [[HAEM5:Hairy cell leukaemia Variant|HCL-v]], and [[HAEM5:Splenic marginal zone lymphoma|SMZL]]<ref name=":3" />
 
|}
 
|}
  
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==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 fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!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]
 
chr7:1- 159,335,973 [hg38]
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
chr7
 
chr7
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|Yes
 
|Yes
 
|No
 
|No
−
|EXAMPLE
+
|<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 reference).
 
|-
 
|-
−
|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]
 
chr8:1-145,138,636 [hg38]
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
chr8
 
chr8
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|No
 
|No
 
|No
 
|No
−
|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 reference).
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==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
  
−
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>
+
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. Do not delete table.'')</span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
Co-deletion of 1p and 18q
 
Co-deletion of 1p and 18q
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|No
 
|No
 
|No
 
|No
−
|EXAMPLE:
+
|<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).
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
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==Gene Mutations (SNV / INDEL)==
 
==Gene Mutations (SNV / INDEL)==
  
−
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>
+
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 as 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. Do not delete table.'') </span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE: TP53; Variable LOF mutations
+
|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
  
−
EXAMPLE:
+
<span class="blue-text">EXAMPLE:</span>
  
 
EGFR; Exon 20 mutations
 
EGFR; Exon 20 mutations
  
−
EXAMPLE: BRAF; Activating mutations
+
<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
−
|EXAMPLE: TSG
+
|<span class="blue-text">EXAMPLE:</span> TSG
−
|EXAMPLE: 20% (COSMIC)
+
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
  
−
EXAMPLE: 30% (add Reference)
+
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
−
|EXAMPLE: IDH1 R123H
+
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
−
|EXAMPLE: EGFR amplification
+
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
 
|
 
|
 
|
 
|
 
|
 
|
−
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
+
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
 
<br />
 
<br />
 
|}
 
|}
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==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
−
|EXAMPLE: BRAF and MAP2K1; Activating mutations
+
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
−
|EXAMPLE: MAPK signaling
+
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
−
|EXAMPLE: Increased cell growth and proliferation
+
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
 
|-
 
|-
−
|EXAMPLE: CDKN2A; Inactivating mutations
+
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
−
|EXAMPLE: Cell cycle regulation
+
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
−
|EXAMPLE: Unregulated cell division
+
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
 
|-
 
|-
−
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
+
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
−
|EXAMPLE:  Histone modification, chromatin remodeling
+
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
−
|EXAMPLE:  Abnormal gene expression program
+
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
 
|}
 
|}
  
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*SDRPL is a provisional WHO entity and definitive diagnostic criteria have not been determined
 
*SDRPL is a provisional WHO entity and definitive diagnostic criteria have not been determined
 
**Diagnosis of exclusion
 
**Diagnosis of exclusion
−
***Differential of splenic lymphomas with cytoplasmic projections:  [[Hairy Cell Leukemia|HCL]], [[Hairy Cell Leukemia Variant|HCL-v]], [[Splenic Marginal Zone Lymphoma|SMZL]]
+
***Differential of splenic lymphomas with cytoplasmic projections:  [[HAEM5:Hairy cell leukaemia|HCL]], [[HAEM5:Hairy cell leukaemia Variant|HCL-v]], [[HAEM5:Splenic marginal zone lymphoma|SMZL]]
 
**Distinction is by clinical history, morphology, and immunohistochemistry
 
**Distinction is by clinical history, morphology, and immunohistochemistry
 
***No pathognomonic diagnostic markers (molecular or otherwise)
 
***No pathognomonic diagnostic markers (molecular or otherwise)
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==Links==
 
==Links==
  
−
*[[Hairy Cell Leukemia]]
+
*[[HAEM5:Hairy cell leukaemia]]
−
*[[Hairy Cell Leukemia Variant]]
+
*[[HAEM5:Hairy cell leukaemia Variant]]
−
*[[Splenic B-cell Lymphoma/Leukemia, Unclassifiable]]
+
*[[HAEM4:Splenic B-cell Lymphoma/Leukemia, Unclassifiable]]
−
*[[Splenic Marginal Zone Lymphoma]]
+
*[[HAEM5:Splenic marginal zone lymphoma]]
  
 
==References==
 
==References==

Latest revision as of 17:27, 6 September 2024

Haematolymphoid Tumours (WHO Classification, 5th ed.)

editContent 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.

(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, 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 to a table, click within the table and select the > symbol that appears to be given options. 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)

Primary Author(s)*

  • Snehal Patel, MD, PhD

WHO Classification of Disease

Structure Disease
Book Haematolymphoid Tumours (5th ed.)
Category B-cell lymphoid proliferations and lymphomas
Family Mature B-cell neoplasms
Type Splenic B-cell lymphomas and leukaemias
Subtype(s) Splenic diffuse red pulp small B-cell lymphoma

Definition / Description of Disease

  • 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


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1][2][3]

Clinical Features

Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)

Signs and Symptoms EXAMPLE: Asymptomatic (incidental finding on complete blood counts)

EXAMPLE: B-symptoms (weight loss, fever, night sweats)

EXAMPLE: Fatigue

EXAMPLE: Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE: Cytopenias

EXAMPLE: Lymphocytosis (low level)


editv4:Clinical Features
The content below was from the old template. Please incorporate above.


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


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1][4]

Sites of Involvement

  • Spleen (red pulp)
  • Bone marrow (sinusoidal > interstitial)
  • Blood
  • Liver
  • Lymph node (uncommon)


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1]

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


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1]

Immunophenotype

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%

*Reports of CD11c expression are conflicting in the literature.


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1][2][4][5][6]

Chromosomal Rearrangements (Gene Fusions)

Put your text here and fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: t(9;22)(q34;q11.2) EXAMPLE: 3'ABL1 / 5'BCR EXAMPLE: der(22) EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add reference)

Yes 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).


editv4:Chromosomal Rearrangements (Gene Fusions)
The content below was from the old template. Please incorporate above.
  • No consistent gene fusion


editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)
Alteration Significance Note
BRAF p.Val600Glu Possible role in diagnosis (exclusion) Prevalent in HCL but rare/absent in SDRPL[3]
MAP2K1 Possible role in diagnosis (exclusion) Prevalent in HCL-v and a subset of cases classified as HCL but uncommon in SDRPL[3]
KLF2 and TNFAIP3 Possible role in diagnosis (exclusion) Prevalent in SMZL but rare/absent in SDRPL[3]
MYD88 Possible role in diagnosis (exclusion) Prevalent in LPL and SMZL but rare/absent in SDRPL[3]
BCOR Possible role in diagnosis (inclusion) Prevalent in SDRPL but rare/absent in HCL, HCL-v, and SMZL[3]

Individual Region Genomic Gain / Loss / LOH

Put your text here and fill in the table (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. Do not delete table.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

chr7:1- 159,335,973 [hg38]

EXAMPLE:

chr7

Yes Yes No EXAMPLE:

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).

EXAMPLE:

8

EXAMPLE: Gain EXAMPLE:

chr8:1-145,138,636 [hg38]

EXAMPLE:

chr8

No No No EXAMPLE:

Common recurrent secondary finding for t(8;21) (add reference).

editv4:Genomic Gain/Loss/LOH
The content below was from the old template. Please incorporate above.
  • 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[7]
  • In a study of 24 cases, 7q deletion in 6 cases; trisomy 3 and 18 in 1 case; trisomy 12 in 3 case[3]

Characteristic Chromosomal Patterns

Put your text here (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. Do not delete table.)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

editv4:Characteristic Chromosomal Aberrations / Patterns
The content below was from the old template. Please incorporate above.
  • BCOR copy number loss in 10% and often with BCOR point mutations[3]
  • Copy number alterations in 69%[7]
  • Complex karyotypes in 13%[3]

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as 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. Do not delete table.)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


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.


editv4:Gene Mutations (SNV/INDEL)
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Gene* Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence[3]
CCND3 Oncogene GOF 21%
BCOR Tumor Suppressor LOF 14%

‡Specific mutations in these genes can be found in cBioPortal, COSMIC, and elsewhere[3]

Epigenomic Alterations

  • Not studied

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Can include references in the table. Do not delete table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
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Molecular feature Pathway
BCOR LoF alterations (point mutations & copy number loss; 24% of SDRPL) germinal center formation & apoptosis
CCND3 GoF alterations (point mutations; 21% of SDRPL) cell cycle regulation

Genetic Diagnostic Testing Methods

  • SDRPL is a provisional WHO entity and definitive diagnostic criteria have not been determined
    • Diagnosis of exclusion
      • Differential of splenic lymphomas with cytoplasmic projections: HCL, HCL-v, SMZL
    • Distinction is by clinical history, morphology, and immunohistochemistry
      • No pathognomonic diagnostic markers (molecular or otherwise)
      • Mutations seen in other entities in DDx are absent/rare in SDRPL and vice versa[3] and may be diagnostically useful (see Clinical Significance below)
        • Next-generation sequencing with targeted lymphoid malignancy panels or exome sequencing may be considered in challenging cases

Familial Forms

  • Not described

Additional Information

  • None

Links

References

(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. 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.)

  1. ↑ 1.0 1.1 1.2 1.3 1.4 T, Vig; et al. (2018). "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". doi:10.5045/br.2018.53.1.74. PMC 5898999. PMID 29662866.CS1 maint: PMC format (link)
  2. ↑ 2.0 2.1 J, Tóth-Lipták; et al. (2015). "A Comprehensive Immunophenotypic Marker Analysis of Hairy Cell Leukemia in Paraffin-Embedded Bone Marrow Trephine Biopsies--A Tissue Microarray Study". PMID 24903677.
  3. ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 L, Jallades; et al. (2017). "Exome Sequencing Identifies Recurrent BCOR Alterations and the Absence of KLF2, TNFAIP3 and MYD88 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma". doi:10.3324/haematol.2016.160192. PMC 5622860. PMID 28751561.CS1 maint: PMC format (link)
  4. ↑ 4.0 4.1 Wy, Cheng; et al. (2018). "Development of B-cell Prolymphocytic Leukemia in a Patient With Splenic Diffuse Red Pulp Small B-cell Lymphoma". PMID 29199492.
  5. ↑ Y, Yamada; et al. (2018). "[Splenic Diffuse Red Pulp Small B-cell Lymphoma Diagnosed by Splenectomy Initially Mimicking Hairy Cell leukemia-Japanese Variant]". PMID 29618685.
  6. ↑ G, Kanellis; et al. (2010). "Splenic diffuse red pulp small B-cell lymphoma: revision of a series of cases reveals characteristic clinico-pathological features". doi:10.3324/haematol.2009.013714. PMC 2895036. PMID 20220064.CS1 maint: PMC format (link)
  7. ↑ 7.0 7.1 D, Martinez; et al. (2016). "NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease". PMID 26426381.

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome. *Citation of this Page: “Splenic diffuse red pulp small B-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 09/6/2024, https://ccga.io/index.php/HAEM5:Splenic_diffuse_red_pulp_small_B-cell_lymphoma.

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