Compendium of Cancer Genome Aberrations

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HAEM5:Primary cutaneous marginal zone lymphoma (view source)

Revision as of 16:20, 6 May 2024

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==Cancer Category / Type==
 
==Cancer Category / Type==
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* Mature B-cell Neoplasms
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*Mature B-cell Neoplasms
    
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
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* Marginal Zone Lymphoma  
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*Marginal Zone Lymphoma  
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** Primary Cutaneous Marginal Zone Lymphoma  
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**Primary Cutaneous Marginal Zone Lymphoma
    
==Definition / Description of Disease==
 
==Definition / Description of Disease==
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Primary cutaneous marginal zone lymphoma (PCMZL) is a indolent non-Hodgkin lymphoma arising in skin without evidence of extracutaneous disease at the time of diagnosis. The tumor is comprised of small B-cells, plasma cells, and a variable number of reactive T-cells infiltrating the dermis, often forming follicles with reactive germinal centers.  
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Primary cutaneous marginal zone lymphoma (PCMZL) is an indolent non-Hodgkin lymphoma arising in skin without evidence of extracutaneous disease at the time of diagnosis. The tumor is comprised of monotypic, CD5-negative, CD10-positive neoplastic small B-cells with monotypic plasma cells, and a variable number of reactive T-cells infiltrating the dermis, often forming follicles with reactive germinal centers. Clonal immunoglobulin rearrangement may be present, thus determining the subtype as class-switched versus non-class-switched heavy-chain immunophenotype. There must be no evidence of extracutaneous disease at the time of diagnosis and other cutaneous lymphomas must be excluded. 
    
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </span>
 
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </span>
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==Synonyms / Terminology==
 
==Synonyms / Terminology==
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* Primary cutaneous marginal zone lymphoproliferative disorder
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*Primary cutaneous marginal zone lymphoproliferative disorder (acceptable)
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* Primary cutaneous immunocytoma (historical; no longer in use)
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*Primary cutaneous immunocytoma (historical; no longer in use)
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* Primary cutaneous plasmacytoma (historical; no longer in use)
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*Primary cutaneous plasmacytoma (historical; no longer in use)
    
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
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* 30-40% of all primary cutaneous B-cell lymphomas
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*30-40% of all primary cutaneous B-cell lymphomas
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* Predominantly affects adults in the fifth and sixth decades of life
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*Predominantly affects adults in the fifth and sixth decades of life
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* Male preponderance  
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*Male preponderance
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*Unknown etiology in most cases
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*Possible causes include chronic antigenic stimulation by intradermally applied antigens (e.g. tattoo pigments, vaccines, tick-borne bacteria, etc.)
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*Association with ''Borrelia burgdorferi'' infection in endemic Europe but not associated in USA or Asia
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*Patients tend to have increased gastrointestinal disorders and various autoimmune diseases as well
    
==Clinical Features==
 
==Clinical Features==
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*  
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*
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* present with multifocal or, less frequently, solitary red or violaceous plaques or nodules
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*Present with multifocal or, less frequently, solitary red or violaceous plaques or nodules
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Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
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{| class="wikitable"
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|'''Signs and Symptoms'''
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|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
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EXAMPLE B-symptoms (weight loss, fever, night sweats)
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EXAMPLE Fatigue
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EXAMPLE Lymphadenopathy (uncommon)
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|-
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|'''Laboratory Findings'''
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|EXAMPLE Cytopenias
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EXAMPLE Lymphocytosis (low level)
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|}
      
==Sites of Involvement==
 
==Sites of Involvement==
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* Skin
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*Skin
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** Most commonly on the trunk and arms  
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**Most commonly on the trunk and arms
    
==Morphologic Features==
 
==Morphologic Features==
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Put your text here
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* Dense dermal infiltrate composed of:
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** Small lymphocytes
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** Plasma cells
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*** Located at periphery of lymphoid infiltrates or in subepidermal compartment
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*** Heavy chain immunophenotype show different morphologies:
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**** Non-class-switched forms
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***** Sheets of B-lymphocytes and few T-lymphocytes
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***** Scattered plasma cells
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**** Class-switched forms
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***** Large number of reactive T-lymphocytes but can occasionally be obscured by the neoplastic B cells
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***** Peripherally clustered monotypic plasma cells
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** Follicles with reactive germinal centers (most cases)
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** clusters of plasmacytoid dendritic cells at periphery of infiltrates
    
==Immunophenotype==
 
==Immunophenotype==
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Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
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* Neoplastic B cells have the following immunophenotype:
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Finding!!Marker
 
!Finding!!Marker
 
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|-
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|Positive (universal)||EXAMPLE CD1
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|Positive||BCL2
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|-
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|Negative||CD5
 
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|-
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|Positive (subset)||EXAMPLE CD2
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|Negative||CD10
 
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|-
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|Negative (universal)||EXAMPLE CD3
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|Negative||BCL6
 
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|-
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|Negative (subset)||EXAMPLE CD4
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|Negative  
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|Cyclin D1
 
|}
 
|}
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* The reactive germinal centers B cells are BCL6 positive and BCL2 negative.
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* CD123 positive plasmacytoid dendritic cells.
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* Plasma cells have monotypic expression of immunoglobulin light chains often. Heavy chain class-switched form IgG, IgA, or IgE and have no expression of CXCR3. If non-class-switched forms are present, IgM and CXCR3 are expressed.
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** Approximately 90% of cases have IgG, IgA, or IgE positivity
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** Approximately 10% of cases have IgM positivity
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* IgG4 expressed by plasma cells in 13-35% of cases, though not related to IgG4-related disease.
    
==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
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Heavy and light chain immunoglobulin gene clonal rearrangements
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Put your text here and fill in the table
 
Put your text here and fill in the table
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==Individual Region Genomic Gain / Loss / LOH==
 
==Individual Region Genomic Gain / Loss / LOH==
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None
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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.'') </span>
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|}
 
|}
 
==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
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None
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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>
 
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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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE: TP53; Variable LOF mutations
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|''FAS'' (CD95) gene mutation
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|Apoptosis regulator
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EXAMPLE:
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|>60% of cases
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EGFR; Exon 20 mutations
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EXAMPLE: BRAF; Activating mutations
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|EXAMPLE: TSG
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|EXAMPLE: 20% (COSMIC)
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|Suggests that apoptosis defect underlies the pathogenesis of PCMZL
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|-
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EXAMPLE: 30% (add Reference)
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|''SLAMF1'' somatic mutation
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|EXAMPLE: IDH1 R123H
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|EXAMPLE: EGFR amplification
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|''SPEN'' somatic mutation
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|''NCOR2'' somatic mutation
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
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<br />
   
|}
 
|}
 
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.
 
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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==Epigenomic Alterations==
 
==Epigenomic Alterations==
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Put your text here
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None
    
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
Retrieved from "https://ccga.io/index.php/Special:MobileDiff/14416"