Compendium of Cancer Genome Aberrations

HAEM5:Primary cutaneous marginal zone lymphoma: Difference between revisions

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{{DISPLAYTITLE:Primary cutaneous marginal zone lymphoma}}
{{DISPLAYTITLE:Primary cutaneous marginal zone lymphoma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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Molly Walkenhorst, DO and Shivani Golem, PhD, FACMG
Molly Walkenhorst, DO and Shivani Golem, PhD, FACMG
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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|}
|}


==Definition / Description of Disease==
==Related Terminology==
 
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, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
 
==Synonyms / Terminology==
 
*Primary cutaneous marginal zone lymphoproliferative disorder (acceptable)
*Primary cutaneous immunocytoma (historical; no longer in use)
*Primary cutaneous plasmacytoma (historical; no longer in use)
 
==Epidemiology / Prevalence==
 
*30-40% of all primary cutaneous B-cell lymphomas
*Predominantly affects adults in the fifth and sixth decades of life
*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==
*
*Present with multifocal or, less frequently, solitary red or violaceous plaques or nodules
==Sites of Involvement==
*Skin
**Most commonly on the trunk and arms
==Morphologic Features==
*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==
*Neoplastic B cells have the following immunophenotype:
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive
|CD20
|-
|Positive
|CD22
|-
|Positive
|CD79a
|-
|Positive||BCL2
|-
|Negative||CD5
|-
|Negative||CD10
|-
|Negative||BCL6
|-
|Negative
|Cyclin D1
|}
*Associated reactive germinal centers B cells
**BCL6 positive
**BCL2 negative
*Plasmacytoid dendritic cells
**CD123 positive
*Plasma cells
**CD138 and CD79a positive
**Plasma cells often have monotypic expression of immunoglobulin light chains
**The immunoglobulin heavy chain can be either non-class-switched or class-switched
***Non-class-switched heavy chain
****Produce IgM
****Positive for CXCR3 expression
****Approximately 10% of cases have IgM positivity
***Class-switched heavy chain
****Produce IgG, IgA, or IgE
****No expression of CXCR3
****Approximately 90% of cases have IgG, IgA, or IgE positivity
**IgG4 expressed by plasma cells in 13-35% of cases, though not related to IgG4-related disease.
==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
|
|Primary cutaneous marginal zone lymphoproliferative disorder
|-
|-
|Not Recommended
|Not Recommended
|
|Primary cutaneous immunocytoma; primary cutaneous plasmacytoma
|}
|}


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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
|-
|-
|
|
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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
|-
|-
|
|
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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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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!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)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
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==Additional Information==
==Additional Information==


*Favorable prognosis
This disease is <u>defined/characterized</u> as detailed below:
**5-year disease-specific survival rate >98%
 
*Recurrence is common
*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. It has a favorable prognosis (5-year disease-specific survival rate >98%), recurrence is common, and 4% of patients will have extracutaneous spread, particularly in patients with longstanding multifocal disease.
*4% of patients will have extracutaneous spread, particularly in patients with longstanding multifocal disease
 
The <u>epidemiology/prevalence</u> of this disease is detailed below:
 
*30-40% of all primary cutaneous B-cell lymphomas
*Predominantly affects adults in the fifth and sixth decades of life
*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
 
The <u>clinical features</u> of this disease are detailed below:
 
Signs and symptoms - Present with multifocal or, less frequently, solitary red or violaceous plaques or nodules
 
Laboratory findings - N/A
 
The <u>sites of involvement</u> of this disease are detailed below:
 
*Skin (most commonly on the trunk and arms)
 
The <u>morphologic features</u> of this disease are detailed below:
 
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
 
The <u>immunophenotype</u> of this disease is detailed below:
 
*Positive (neoplastic B cells) - CD20, CD22, CD79a, BCL2
*Negative (neoplastic B cells) - CD5, CD10, BCL6, Cyclin D1
 
*Positive (associated reactive germinal centers B cells) - BCL6
*Negative (associated reactive germinal centers B cells) - BCL2
*Positive (plasmacytoid dendritic cells) - CD123
*Positive (plasma cells) - CD138, CD79a
**Plasma cells often have monotypic expression of immunoglobulin light chains
**The immunoglobulin heavy chain can be either non-class-switched or class-switched
***Non-class-switched heavy chain
****Produce IgM
****Positive for CXCR3 expression
****Approximately 10% of cases have IgM positivity
***Class-switched heavy chain
****Produce IgG, IgA, or IgE
****No expression of CXCR3
****Approximately 90% of cases have IgG, IgA, or IgE positivity
**IgG4 expressed by plasma cells in 13-35% of cases, though not related to IgG4-related disease.


==Links==
==Links==
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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>
(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 />
 
==Notes==
==Notes==
<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 [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.
<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 [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.
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