Compendium of Cancer Genome Aberrations

HAEM5:Primary cutaneous marginal zone lymphoma: Difference between revisions

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==Cancer Category / Type==
==Cancer Category / Type==


* Mature B-cell Neoplasms
*Mature B-cell Neoplasms


==Cancer Sub-Classification / Subtype==
==Cancer Sub-Classification / Subtype==


* Marginal Zone Lymphoma  
*Marginal Zone Lymphoma  
** Primary Cutaneous Marginal Zone Lymphoma  
**Primary Cutaneous Marginal Zone Lymphoma


==Definition / Description of Disease==
==Definition / Description of Disease==


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.  
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==


* Primary cutaneous marginal zone lymphoproliferative disorder
*Primary cutaneous marginal zone lymphoproliferative disorder (acceptable)
* Primary cutaneous immunocytoma (historical; no longer in use)
*Primary cutaneous immunocytoma (historical; no longer in use)
* Primary cutaneous plasmacytoma (historical; no longer in use)
*Primary cutaneous plasmacytoma (historical; no longer in use)


==Epidemiology / Prevalence==
==Epidemiology / Prevalence==


* 30-40% of all primary cutaneous B-cell lymphomas
*30-40% of all primary cutaneous B-cell lymphomas
* Predominantly affects adults in the fifth and sixth decades of life
*Predominantly affects adults in the fifth and sixth decades of life
* Male preponderance  
*Male preponderance
*Unknown etiology in most cases
*Possible causes include chronic antigenic stimulation by intradermally applied antigens (e.g. tattoo pigments, vaccines, tick-borne bacteria, etc.)
*Association with ''Borrelia burgdorferi'' infection in endemic Europe but not associated in USA or Asia
*Patients tend to have increased gastrointestinal disorders and various autoimmune diseases as well


==Clinical Features==
==Clinical Features==


*  
*
* present with multifocal or, less frequently, solitary red or violaceous plaques or nodules
*Present with multifocal or, less frequently, solitary red or violaceous plaques or nodules
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
{| class="wikitable"
|'''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)
|}


==Sites of Involvement==
==Sites of Involvement==


* Skin
*Skin
** Most commonly on the trunk and arms  
**Most commonly on the trunk and arms


==Morphologic Features==
==Morphologic Features==


Put your text here
* Dense dermal infiltrate composed of:
** Small lymphocytes
** Plasma cells
*** Located at periphery of lymphoid infiltrates or in subepidermal compartment
*** Heavy chain immunophenotype show different morphologies:
**** Non-class-switched forms
***** Sheets of B-lymphocytes and few T-lymphocytes
***** Scattered plasma cells
**** Class-switched forms
***** Large number of reactive T-lymphocytes but can occasionally be obscured by the neoplastic B cells
***** Peripherally clustered monotypic plasma cells
** Follicles with reactive germinal centers (most cases)
** clusters of plasmacytoid dendritic cells at periphery of infiltrates


==Immunophenotype==
==Immunophenotype==


Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
* Neoplastic B cells have the following immunophenotype:


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||EXAMPLE CD1
|Positive||BCL2
|-
|Negative||CD5
|-
|-
|Positive (subset)||EXAMPLE CD2
|Negative||CD10
|-
|-
|Negative (universal)||EXAMPLE CD3
|Negative||BCL6
|-
|-
|Negative (subset)||EXAMPLE CD4
|Negative  
|Cyclin D1
|}
|}
* The reactive germinal centers B cells are BCL6 positive and BCL2 negative.
* CD123 positive plasmacytoid dendritic cells.
* 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.
** Approximately 90% of cases have IgG, IgA, or IgE positivity
** Approximately 10% of cases have IgM positivity
* 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)==
Heavy and light chain immunoglobulin gene clonal rearrangements


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==
None


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==
None


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
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|''FAS'' (CD95) gene mutation
 
|Apoptosis regulator
EXAMPLE:
|>60% of cases
 
|
EGFR; Exon 20 mutations
|
 
|
EXAMPLE: BRAF; Activating mutations
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|EXAMPLE: TSG
|
|EXAMPLE: 20% (COSMIC)
|Suggests that apoptosis defect underlies the pathogenesis of PCMZL
 
|-
EXAMPLE: 30% (add Reference)
|''SLAMF1'' somatic mutation
|EXAMPLE: IDH1 R123H
|
|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).
<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==


Put your text here
None


==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
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