Compendium of Cancer Genome Aberrations

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HAEM5:Primary cutaneous marginal zone lymphoma (view source)

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{{DISPLAYTITLE:Primary cutaneous marginal zone lymphoma}}
 
{{DISPLAYTITLE:Primary cutaneous marginal zone lymphoma}}
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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
 
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
    
{{Under Construction}}
 
{{Under Construction}}
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<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). 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>
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==Primary Author(s)*==
 
==Primary Author(s)*==
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Put your text here<span style="color:#0070C0"> (''Name and affiliation; example:'' Jane Smith, PhD, Institute of Genomics) </span>
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Molly Walkenhorst, DO and Shivani Golem, PhD, FACMG
    
__TOC__
 
__TOC__
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==Cancer Category / Type==
 
==Cancer Category / Type==
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Put your text here
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*Mature B-cell Neoplasms
    
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
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Put your text here
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*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 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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Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
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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 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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*Predominantly affects adults in the fifth and sixth decades of life
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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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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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*
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{| class="wikitable"
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*Present with multifocal or, less frequently, solitary red or violaceous plaques or nodules
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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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|'''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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Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow'') </span>
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*Skin
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**Most commonly on the trunk and arms
    
==Morphologic Features==
 
==Morphologic Features==
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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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|Positive (universal)||EXAMPLE CD1
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|Positive||BCL2
 
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|Positive (subset)||EXAMPLE CD2
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|Negative||CD5
 
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|Negative (universal)||EXAMPLE CD3
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|Negative||CD10
 
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|Negative (subset)||EXAMPLE CD4
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|Negative||BCL6
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|-
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|Negative
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|Cyclin D1
 
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|}
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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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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 />
   
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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.
 
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==
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==Additional Information==
 
==Additional Information==
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Put your text here
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* Favorable prognosis
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** 5-year disease-specific survival rate >98%
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* Recurrence is common
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* 4% of patients will have extracutaneous spread, particularly in patients with longstanding multifocal disease
    
==Links==
 
==Links==
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<nowiki>*</nowiki>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.
 
<nowiki>*</nowiki>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.
 
<nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous marginal zone lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Primary_cutaneous_marginal_zone_lymphoma</nowiki>.
 
<nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous marginal zone lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Primary_cutaneous_marginal_zone_lymphoma</nowiki>.
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[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases P]]
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[[Category:HAEM5]]
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[[Category:DISEASE]]
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[[Category:Diseases P]]
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