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| ==Cancer Category / Type== | | ==Cancer Category / Type== |
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− | * Mature B-cell Neoplasms | + | *Mature B-cell Neoplasms |
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| ==Cancer Sub-Classification / Subtype== | | ==Cancer Sub-Classification / Subtype== |
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− | * Marginal Zone Lymphoma | + | *Marginal Zone Lymphoma |
− | ** Primary Cutaneous Marginal Zone Lymphoma | + | **Primary Cutaneous Marginal Zone Lymphoma |
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| ==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. | + | 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. |
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| 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 | + | *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) |
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| ==Epidemiology / Prevalence== | | ==Epidemiology / Prevalence== |
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− | * 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 |
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| ==Clinical Features== | | ==Clinical Features== |
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− | * | + | * |
− | * 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>
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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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− | |}
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| ==Sites of Involvement== | | ==Sites of Involvement== |
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− | * Skin | + | *Skin |
− | ** Most commonly on the trunk and arms | + | **Most commonly on the trunk and arms |
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| ==Morphologic Features== | | ==Morphologic Features== |
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− | 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 |
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| ==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>
| + | *Neoplastic B cells have the following immunophenotype: |
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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| !Finding!!Marker | | !Finding!!Marker |
| |- | | |- |
− | |Positive (universal)||EXAMPLE CD1 | + | |Positive||BCL2 |
| |- | | |- |
− | |Positive (subset)||EXAMPLE CD2 | + | |Negative||CD5 |
| |- | | |- |
− | |Negative (universal)||EXAMPLE CD3 | + | |Negative||CD10 |
| |- | | |- |
− | |Negative (subset)||EXAMPLE CD4 | + | |Negative||BCL6 |
| + | |- |
| + | |Negative |
| + | |Cyclin D1 |
| |} | | |} |
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| + | *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. |
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| ==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 |
| |- | | |- |
− | |EXAMPLE: TP53; Variable LOF mutations | + | |''FAS'' (CD95) gene mutation |
− | | + | |Apoptosis regulator |
− | EXAMPLE:
| + | |>60% of cases |
− | | + | | |
− | EGFR; Exon 20 mutations
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− | | + | | |
− | 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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| + | | |
| + | | |
| + | | |
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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
| + | None |
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| ==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
| + | * Favorable prognosis |
| + | ** 5-year disease-specific survival rate >98% |
| + | * Recurrence is common |
| + | * 4% of patients will have extracutaneous spread, particularly in patients with longstanding multifocal disease |
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| ==Links== | | ==Links== |