Difference between revisions of "HAEM5:Nodal marginal zone lymphoma"

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(Created page with "{{DISPLAYTITLE:Nodal marginal zone lymphoma}} Haematolymphoid Tumours (5th ed.) {{Under Construction}} <blockquote class='blockedit'>{{Box-round|...")
 
 
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{{DISPLAYTITLE:Nodal marginal zone lymphoma}}
 
{{DISPLAYTITLE:Nodal marginal zone lymphoma}}
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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
  
 
{{Under Construction}}
 
{{Under Construction}}
  
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-11-03. The original page can be found at [[HAEM4:Nodal Marginal Zone Lymphoma]].
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<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Nodal Marginal Zone Lymphoma]].
 
}}</blockquote>
 
}}</blockquote>
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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); to add (or move) a row or column to a table, click within the table and select the > symbol that appears to be given options. 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>
 +
 
==Primary Author(s)*==
 
==Primary Author(s)*==
  
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__TOC__
 
__TOC__
  
−
==Cancer Category/Type==
+
==WHO Classification of Disease==
  
−
*[[Mature B-Cell Neoplasms]]
+
{| class="wikitable"
−
 
+
!Structure
−
==Cancer Sub-Classification / Subtype==
+
!Disease
−
 
+
|-
−
*Nodal Marginal Zone Lymphoma
+
|Book
 +
|Haematolymphoid Tumours (5th ed.)
 +
|-
 +
|Category
 +
|B-cell lymphoid proliferations and lymphomas
 +
|-
 +
|Family
 +
|Mature B-cell neoplasms
 +
|-
 +
|Type
 +
|Marginal zone lymphoma
 +
|-
 +
|Subtype(s)
 +
|Nodal marginal zone lymphoma
 +
|}
  
 
==Definition / Description of Disease==
 
==Definition / Description of Disease==
  
−
Nodal marginal zone lymphoma (NMZL) is an uncommon subtype of non-Hodgkin lymphoma. It is a primary nodal B-cell lymphoma with histological features similar to [[Splenic Marginal Zone Lymphoma|Splenic marginal zone lymphoma]] and [[Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue (MALT Lymphoma)|Extranodal marginal zone lymphoma]] involving lymph nodes, but without evidence of splenic or extranodal disease<ref name=":0">Campo E, et al., (2017). Nodal marginal zone lymphoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p263-264.</ref>.
+
Nodal marginal zone lymphoma (NMZL) is an uncommon subtype of non-Hodgkin lymphoma. It is a primary nodal B-cell lymphoma with histological features similar to [[HAEM5:Splenic marginal zone lymphoma|Splenic marginal zone lymphoma]] and [[HAEM5:Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|Extranodal marginal zone lymphoma]] involving lymph nodes, but without evidence of splenic or extranodal disease<ref name=":0">Campo E, et al., (2017). Nodal marginal zone lymphoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p263-264.</ref>.
  
 
==Synonyms / Terminology==
 
==Synonyms / Terminology==
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*Median age ~60 years old
 
*Median age ~60 years old
 
*Both sexes are affected equally
 
*Both sexes are affected equally
−
*Cases also occur in children and are separately diagnosed as [[Paediatric Nodal Marginal Zone Lymphoma]]
+
*Cases also occur in children and are separately diagnosed as [[HAEM5:Paediatric nodal marginal zone lymphoma]]
 
*Association with autoimmune diseases
 
*Association with autoimmune diseases
 
*Association with Hepatitis C virus infection reported in some studies but not all studies
 
*Association with Hepatitis C virus infection reported in some studies but not all studies
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==Clinical Features==
 
==Clinical Features==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
 
{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
−
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
+
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
  
−
EXAMPLE B-symptoms (weight loss, fever, night sweats)
+
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
  
−
EXAMPLE Fatigue
+
<span class="blue-text">EXAMPLE:</span> Fatigue
  
−
EXAMPLE Lymphadenopathy (uncommon)
+
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
 
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
−
|EXAMPLE Cytopenias
+
|<span class="blue-text">EXAMPLE:</span> Cytopenias
  
−
EXAMPLE Lymphocytosis (low level)
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<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
 
|}
 
|}
  
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==Immunophenotype==
 
==Immunophenotype==
  
−
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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Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Finding!!Marker
 
!Finding!!Marker
 
|-
 
|-
−
|Positive (universal)||EXAMPLE CD1
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|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
 
|-
 
|-
−
|Positive (subset)||EXAMPLE CD2
+
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
 
|-
 
|-
−
|Negative (universal)||EXAMPLE CD3
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|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
 
|-
 
|-
−
|Negative (subset)||EXAMPLE CD4
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|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
 
|}
 
|}
  
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
+
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
−
EXAMPLE 30% (add reference)
+
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
 
|Yes
 
|Yes
 
|No
 
|No
 
|Yes
 
|Yes
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
 
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
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</blockquote>
 
</blockquote>
−
==Individual Region Genomic Gain/Loss/LOH==
+
==Individual Region Genomic Gain / Loss / LOH==
  
−
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. Do not delete table.'') </span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
7
 
7
−
|EXAMPLE Loss
+
|<span class="blue-text">EXAMPLE:</span> Loss
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
chr7:1- 159,335,973 [hg38]
 
chr7:1- 159,335,973 [hg38]
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
chr7
 
chr7
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|Yes
 
|Yes
 
|No
 
|No
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
|-
 
|-
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
8
 
8
−
|EXAMPLE Gain
+
|<span class="blue-text">EXAMPLE:</span> Gain
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
chr8:1-145,138,636 [hg38]
 
chr8:1-145,138,636 [hg38]
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
chr8
 
chr8
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|No
 
|No
 
|No
 
|No
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
Common recurrent secondary finding for t(8;21) (add reference).
 
Common recurrent secondary finding for t(8;21) (add reference).
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==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
  
−
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. Do not delete table.'')</span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE
+
|<span class="blue-text">EXAMPLE:</span>
  
 
Co-deletion of 1p and 18q
 
Co-deletion of 1p and 18q
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|No
 
|No
 
|No
 
|No
−
|EXAMPLE:
+
|<span class="blue-text">EXAMPLE:</span>
  
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
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<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref name=":0" /><ref name=":2" /></blockquote>
 
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref name=":0" /><ref name=":2" /></blockquote>
 
</blockquote>
 
</blockquote>
−
==Gene Mutations (SNV/INDEL)==
+
==Gene Mutations (SNV / INDEL)==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.'') </span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE: TP53; Variable LOF mutations
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|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
  
−
EXAMPLE:
+
<span class="blue-text">EXAMPLE:</span>
  
 
EGFR; Exon 20 mutations
 
EGFR; Exon 20 mutations
  
−
EXAMPLE: BRAF; Activating mutations
+
<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
−
|EXAMPLE: TSG
+
|<span class="blue-text">EXAMPLE:</span> TSG
−
|EXAMPLE: 20% (COSMIC)
+
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
  
−
EXAMPLE: 30% (add Reference)
+
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
−
|EXAMPLE: IDH1 R123H
+
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
−
|EXAMPLE: EGFR amplification
+
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
 
|
 
|
 
|
 
|
 
|
 
|
−
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
+
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
 
<br />
 
<br />
 
|}
 
|}
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==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
  
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span>
+
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
−
|EXAMPLE: BRAF and MAP2K1; Activating mutations
+
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
−
|EXAMPLE: MAPK signaling
+
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
−
|EXAMPLE: Increased cell growth and proliferation
+
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
 
|-
 
|-
−
|EXAMPLE: CDKN2A; Inactivating mutations
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|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
−
|EXAMPLE: Cell cycle regulation
+
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
−
|EXAMPLE: Unregulated cell division
+
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
 
|-
 
|-
−
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
+
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
−
|EXAMPLE:  Histone modification, chromatin remodeling
+
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
−
|EXAMPLE:  Abnormal gene expression program
+
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
 
|}
 
|}
  
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==Links==
 
==Links==
  
−
*[[Paediatric Nodal Marginal Zone Lymphoma]]
+
*[[HAEM5:Paediatric nodal marginal zone lymphoma]]
−
*[[Splenic Marginal Zone Lymphoma]]
+
*[[HAEM5:Splenic marginal zone lymphoma]]
−
*[[Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue (MALT Lymphoma)|Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue]]
+
*[[HAEM5:Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue]]
  
 
==References==
 
==References==

Latest revision as of 17:28, 6 September 2024

Haematolymphoid Tumours (WHO Classification, 5th ed.)

editContent Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification
This page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Nodal Marginal Zone Lymphoma.

(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), 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); to add (or move) a row or column to a table, click within the table and select the > symbol that appears to be given options. 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)

Primary Author(s)*

Andrew Ly, DO and Shivani Golem, PhD, FACMG

WHO Classification of Disease

Structure Disease
Book Haematolymphoid Tumours (5th ed.)
Category B-cell lymphoid proliferations and lymphomas
Family Mature B-cell neoplasms
Type Marginal zone lymphoma
Subtype(s) Nodal marginal zone lymphoma

Definition / Description of Disease

Nodal marginal zone lymphoma (NMZL) is an uncommon subtype of non-Hodgkin lymphoma. It is a primary nodal B-cell lymphoma with histological features similar to Splenic marginal zone lymphoma and Extranodal marginal zone lymphoma involving lymph nodes, but without evidence of splenic or extranodal disease[1].

Synonyms / Terminology

  • Monocytoid B-cell lymphoma
  • Parafollicular B-cell lymphoma (no longer in use)


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1]

Epidemiology / Prevalence

  • 1.5-1.8% of all lymphoid neoplasms
  • Median age ~60 years old
  • Both sexes are affected equally
  • Cases also occur in children and are separately diagnosed as HAEM5:Paediatric nodal marginal zone lymphoma
  • Association with autoimmune diseases
  • Association with Hepatitis C virus infection reported in some studies but not all studies


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1][2][3]

Clinical Features

Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)

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)


editv4:Clinical Features
The content below was from the old template. Please incorporate above.
  • Asymptomatic, localized or generalized lymphadenopathy
  • B symptoms (fever, night sweats, and weight loss)
  • Bone marrow involvement

The presence of a primary extranodal marginal zone lymphoma should be ruled out due to the possibility of a nodal dissemination of a MALT lymphoma occurring in patients with a history of Sjogren syndrome and Hashimoto thyroiditis[1].

Sites of Involvement

  • Lymph nodes
  • Bone marrow
  • Peripheral blood

Morphologic Features

  • Variable populations of lymphoma cells
    1. Centrocyte-like and monocytoid B-cells
    2. Plasma cells
    3. Scattered transformed B cells
  • Lymph nodes show small lymphoma cells surrounding reactive follicles (marginal zone distribution)
    1. Extension to interfollicular areas and follicular colonization may be present
    2. Diffuse or partial nodal effacement may be present
  • Bone marrow shows lymphoma cells in interstitial, nodular, intertrabecular or paratrabecular distribution


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1]

Immunophenotype

Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)

Finding Marker
Positive (universal) EXAMPLE: CD1
Positive (subset) EXAMPLE: CD2
Negative (universal) EXAMPLE: CD3
Negative (subset) EXAMPLE: CD4


editv4:Immunophenotype
The content below was from the old template. Please incorporate above.
Finding Marker
Positive (B-cell lineage markers) CD19, CD20, CD22, PAX5, FMC7, CD79a, sIg
Positive (most cases) BCL2, MNDA, IRTA1
Variable positivity CD5, CD43, CD23
Negative CD10, Cyclin D1, BCL6, LMO2

Chromosomal Rearrangements (Gene Fusions)

Put your text here and fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: t(9;22)(q34;q11.2) EXAMPLE: 3'ABL1 / 5'BCR EXAMPLE: der(22) EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add reference)

Yes No Yes EXAMPLE:

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).


editv4:Chromosomal Rearrangements (Gene Fusions)
The content below was from the old template. Please incorporate above.
  • Recurrent chromosomal translocations that are frequent in other lymphoid malignancies and associated with extranodal MZL are not detected[1][4].


editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)
  • None.

Individual Region Genomic Gain / Loss / LOH

Put your text here and fill in the table (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. Do not delete table.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

chr7:1- 159,335,973 [hg38]

EXAMPLE:

chr7

Yes Yes No EXAMPLE:

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

EXAMPLE:

8

EXAMPLE: Gain EXAMPLE:

chr8:1-145,138,636 [hg38]

EXAMPLE:

chr8

No No No EXAMPLE:

Common recurrent secondary finding for t(8;21) (add reference).

editv4:Genomic Gain/Loss/LOH
The content below was from the old template. Please incorporate above.


Chromosome Number Gain/Loss/Amp/LOH Region
3 Gain N/A
12 Gain N/A
18 Gain N/A
6 Loss 6q23-24


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1]

Characteristic Chromosomal Patterns

Put your text here (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. Do not delete table.)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

editv4:Characteristic Chromosomal Aberrations / Patterns
The content below was from the old template. Please incorporate above.


  • Deletions in 7q31


editUnassigned References
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[1][4]

Gene Mutations (SNV / INDEL)

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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) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


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.


editv4:Gene Mutations (SNV/INDEL)
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Whole-exome sequencing (WES) study have identified mutations involved in NOTCH, nuclear factor κB (NF-κB), B-cell receptors and toll like receptor pathways . In one study, 16% (4/25) of cases identified a BRAF (V600E) mutation with associated strong IgD expression. In one of the four BRAF positive mutation, two non-hotspot mutations were detected (L597Q and N581I) which was previously found in BRAF V600 wild-type melanoma. In the same study, mutations of KMT2D (7/25, 28%), TET2 (5/25, 20%), and EZH2 (5/25, 20%) were among the more frequent mutated genes. CREBBP, TNFRSF14, FAS, TNFAIP3, KLF2, and CXCR4 mutations were also detected[4]. In another study, which investigated genetic lesions in 35 patients with NMZL, PTPRD mutations were found in 14.3% (5/35) of patients and PTPRD locus deletions were found in 5.7% (2/35) of patients[5]. Mutations were also identified in another study for NFKBIE and ITPR2 mutations involved in the NF-κB pathway and B-cell receptor mediated calcium signal pathway. However, in this study they did not find any PTPRD mutations or BRAF mutations, demonstrating the diverseness of the disease[6]. No BRAF mutations have yet to be identified in other studies on NMZL[4].

Other Mutations

Immunoglobulin genes are clonally rearranged consisting of mutated IGHV3 and IGHV4 family members, particularly IGHV4-34 and cases associated with hepatitis C use IGHV1-69[1].

Epigenomic Alterations

  • Not known in this specific subtype.

Genes and Main Pathways Involved

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Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
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  • NF-κB pathway and B-cell receptor mediated calcium signal pathway.

Genetic Diagnostic Testing Methods

  • No diagnostic test is specifically established.

Familial Forms

  • Not known in this specific subtype.

Additional Information

None

Links

References

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  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Campo E, et al., (2017). Nodal marginal zone lymphoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p263-264.
  2. ↑ Arcaini, Luca; et al. (2007-01). "Primary nodal marginal zone B-cell lymphoma: clinical features and prognostic assessment of a rare disease". British Journal of Haematology. 136 (2): 301–304. doi:10.1111/j.1365-2141.2006.06437.x. ISSN 0007-1048. Check date values in: |date= (help)
  3. ↑ Brand, Michiel van den; et al. (2013-07-01). "Recognizing nodal marginal zone lymphoma: recent advances and pitfalls. A systematic review". Haematologica. 98 (7): 1003–1013. doi:10.3324/haematol.2012.083386. ISSN 1592-8721. PMC 3696602. PMID 23813646.CS1 maint: PMC format (link)
  4. ↑ 4.0 4.1 4.2 4.3 Pillonel, V.; et al. (2018-11). "High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations". Leukemia. 32 (11): 2412–2426. doi:10.1038/s41375-018-0082-4. ISSN 0887-6924. PMC 6224405. PMID 29556019. Check date values in: |date= (help)CS1 maint: PMC format (link)
  5. ↑ Spina, Valeria; et al. (2016-09-08). "The genetics of nodal marginal zone lymphoma". Blood. 128 (10): 1362–1373. doi:10.1182/blood-2016-02-696757. ISSN 0006-4971. PMC 5016706. PMID 27335277.CS1 maint: PMC format (link)
  6. ↑ Koh, Jiwon; et al. (2020-06-23). "Discovery of Novel Recurrent Mutations and Clinically Meaningful Subgroups in Nodal Marginal Zone Lymphoma". Cancers. 12 (6): 1669. doi:10.3390/cancers12061669. ISSN 2072-6694. PMC PMC7352856 Check |pmc= value (help). PMID 32585984 Check |pmid= value (help).CS1 maint: PMC format (link)

Notes

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*Citation of this Page: “Nodal marginal zone lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 09/6/2024, https://ccga.io/index.php/HAEM5:Nodal_marginal_zone_lymphoma.

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