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{{DISPLAYTITLE:Splenic marginal zone lymphoma}} | {{DISPLAYTITLE:Splenic marginal zone lymphoma}} | ||
| − | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | + | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
{{Under Construction}} | {{Under Construction}} | ||
| − | <blockquote class='blockedit'>{{Box-round|title= | + | <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:Splenic Marginal Zone Lymphoma]]. |
}}</blockquote> | }}</blockquote> | ||
| + | |||
| + | <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)*== | ||
| Line 11: | Line 14: | ||
__TOC__ | __TOC__ | ||
| − | == | + | ==WHO Classification of Disease== |
| − | + | {| class="wikitable" | |
| − | + | !Structure | |
| − | + | !Disease | |
| − | + | |- | |
| − | + | |Book | |
| + | |Haematolymphoid Tumours (5th ed.) | ||
| + | |- | ||
| + | |Category | ||
| + | |B-cell lymphoid proliferations and lymphomas | ||
| + | |- | ||
| + | |Family | ||
| + | |Mature B-cell neoplasms | ||
| + | |- | ||
| + | |Type | ||
| + | |Splenic B-cell lymphomas and leukaemias | ||
| + | |- | ||
| + | |Subtype(s) | ||
| + | |Splenic marginal zone lymphoma | ||
| + | |} | ||
==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
| Line 43: | Line 60: | ||
==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) | + | <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level) |
|} | |} | ||
| Line 130: | Line 147: | ||
!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). | ||
| Line 199: | Line 216: | ||
==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" | ||
| Line 209: | Line 226: | ||
!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 | ||
| Line 222: | Line 239: | ||
|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 | ||
| Line 239: | Line 256: | ||
|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). | ||
| Line 261: | Line 278: | ||
==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" | ||
| Line 271: | Line 288: | ||
!Notes | !Notes | ||
|- | |- | ||
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
| Line 277: | Line 294: | ||
|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). | ||
| Line 289: | Line 306: | ||
==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 | + | 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" | ||
| Line 299: | Line 316: | ||
!Notes | !Notes | ||
|- | |- | ||
| − | |EXAMPLE: TP53; Variable LOF mutations | + | |<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 /> | ||
|} | |} | ||
| Line 406: | Line 423: | ||
==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 | + | |<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 |
|} | |} | ||
Latest revision as of 17:27, 6 September 2024
Haematolymphoid Tumours (WHO Classification, 5th ed.)
 | This page is under construction |
editContent Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition ClassificationThis page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Splenic 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)*
- Snehal Patel, MD, PhD
WHO Classification of Disease
| Structure | Disease |
|---|---|
| Book | Haematolymphoid Tumours (5th ed.) |
| Category | B-cell lymphoid proliferations and lymphomas |
| Family | Mature B-cell neoplasms |
| Type | Splenic B-cell lymphomas and leukaemias |
| Subtype(s) | Splenic marginal zone lymphoma |
Definition / Description of Disease
- Indolent mature B-cell neoplasm of adults involving the spleen, blood, and bone marrow
- Splenic white pulp effacement by small lymphocytes and pale marginal zone involved by larger cells
- Likely originating from mature B-cells of the marginal zone
- The synonyms derive from circulating lymphocytes with cytoplasmic villous projections
Synonyms / Terminology
- Splenic B-cell marginal zone lymphoma
- Splenic lymphoma with villous lymphocytes
- Splenic lymphoma with circulating villous lymphocytes
Epidemiology / Prevalence
- 1 to 2% of lymphoid neoplasms
- Median age: mid to late 60's
- Males ~ Females
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
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 FeaturesThe content below was from the old template. Please incorporate above.Signs & Symptoms
- Splenic enlargement and discomfort
- Lymphadenopathy (rare)
- Autoimmune hemolytic anemia or thrombocytopenia
- Association with Hepatitis C virus
Laboratory findings
- Cytopenias
- Lymphocytosis (low level)
- Small paraprotein
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Sites of Involvement
- Spleen (white pulp)
- Perihilar lymph nodes
- Blood
- Bone marrow
- liver (less common)
- peripheral lymph nodes (rare)
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Morphologic Features
- Marked expansion splenic white pulp by neoplastic B-cells
- Effacement of mantle zone and germinal center by small neoplastic B-cells
- Residual germinal centers may be present
- Small cells and large cells with more cytoplasm are seen in the marginal zone
- Neoplastic B-cells show cytoplasmic projections in smear preparations
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Immunophenotype
| Finding | Marker |
|---|---|
| Positive (B-cell lineage markers) | CD19, CD20 (bright), CD22, PAX5, FMC7, sIg (bright, monotypic) |
| Positive (subset) | CD5, CD11c, CD70, CD103 |
| Negative | CD10, CD21, CD35, CD42, CD123, BCL1, BCL6, SOX11, LEF1, IRTA1, BRAF V600E |
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
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.
- Rare but (some) recurrent translocations/gene fusions:
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)
Alteration Clinical Significance Note BRAF mutations Diagnostic (exclusion) Present in hairy cell leukemia (HCL) and absent in SMZL[14] MYD88 mutations Diagnostic (exclusion) Present in lymphoplasmacytic lymphoma (LPL) and rare but not absent in SMZL t(11;14)(q13;q32)/IGH-CCND1* Diagnostic (exclusion) Present in mantle cell lymphoma (MCL) and absent in SMZL t(14;18)(q32;q21)/IGH-BCL2 Diagnostic (exclusion) Present in follicular lymphoma (FL) and rare but not absent in SMZL[9] t(11;18)(q21;q21)/BIRC3-MALT1 Diagnostic (exclusion) Present in MALT lymphoma and absent in SMZL t(14;18)(q32;q21)/IGH-MALT1 Diagnostic (exclusion) Present in MALT lymphoma and absent in SMZL[15] t(1;14)(p22;q32)/IGH-BCL10 Diagnostic (exclusion) Present in MALT lymphoma and absent in SMZL *Cases previously reported as SMZL with IGH-CCND1 fusion should now be classified as MCL
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/LOHThe content below was from the old template. Please incorporate above.
Chromosome Number Gain/Loss/Amp/LOH Significance Prevalence 7q31-32 Loss (heterozygous) Unknown; possible haploinsufficiency of IRF5 tumor suppressor[16] 26–45%[1][17][18] 3/3q Gain (trisomy) Unknown 15%[1][18][17]
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 / PatternsThe content below was from the old template. Please incorporate above.
- Ig gene rearrangements
Gene Mutations (SNV / INDEL)
Put your text here and fill in the table (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.)
| 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)The content below was from the old template. Please incorporate above.
Gene* Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other) Prevalence (COSMIC) NOTCH2 Oncogene or Tumor Suppressor[19] Other 21% MYD88 Oncogene GOF 7% KLF2 Likely tumor suppressor in most contexts[20] LOF 20%[21] TNFAIP3 Tumor Suppressor LOF 8% TP53 Tumor Suppressor LOF 7% BIRC3 Oncogene or Tumor Suppressor[22] Other 5% CARD11 Oncogene GOF 4% IKBKB Oncogene GOF 4% SPEN Tumor Suppressor LOF 6% NOTCH1 Oncogene or Tumor Suppressor[19] Other 11% TBL1XR1 Oncogene or Tumor Suppressor[23] Other 7% NFKBIE Tumor Suppressor LOF 2% *Specific mutations in these genes may be found in cBioPortal or COSMIC.
Epigenomic Alterations
- Epigenetic dysregulation expected on basis of genetic alterations in histone modifying and chromatin remodeling factors:
- TBL1XR1 is a member of nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC3) complexes
- CREBBP is a histone acetyltransferase
- ARID1A is a member of SWI-SNF complexes
- EP300 is a histone acetyltransferase
- DNMT3A is a DNA methyltransferase
- Promoter methylation and gene expression study revealed two clusters of SMZL[24]
- high methylation group compared to low methylation group showed
- Methylated/repressed tumor suppressor genes and unmethylated/overexpressed prosurvival genes
- Association with NOTCH2 mutations, 7q31-32 loss, and histologic transformation
- Reduced overall survival
- Reduced proliferation and reversion of phenotype in response to demethylating agents in vitro
- high methylation group compared to low methylation group showed
Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Can include references in the table. Do not delete table.)
| 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 InvolvedThe content below was from the old template. Please incorporate above.
Molecular Feature Pathway Pathophysiologic outcome NOTCH2, NOTCH1, DTX, and SPEN mutations NOTCH signaling[25] Increased proliferation and survival MYD88, TNFAIP3, BIRC3, CARD11, IKBKB, NFKBIE, and TRAF3 mutations NF-κB signaling[26][27][28] Lymphocyte development TP53 mutations TP53 pathway Dysregulation of genomic stability and apoptosis TBL1XR1, CREBBP, ARID1A, EP300, and DNMT3A mutations Histone modification and chromatin remodeling[25] Abnormal gene expression program
Genetic Diagnostic Testing Methods
- Clinical, morphologic, and immunophenotypic findings and exclusion of other low-grade B-cell lymphomas are generally sufficient for diagnosis
- No established specific diagnostic test currently exists
- Molecular testing may help exclude other entities in some cases (see below)
Familial Forms
- None
Additional Information
- None
Links
- HAEM4:Splenic B-cell Lymphoma/Leukemia, Unclassifiable
- HAEM5:Splenic diffuse red pulp small B-cell lymphoma
References
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- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Salido, Marta; et al. (2010). "Cytogenetic aberrations and their prognostic value in a series of 330 splenic marginal zone B-cell lymphomas: a multicenter study of the Splenic B-Cell Lymphoma Group". Blood. 116 (9): 1479–1488. doi:10.1182/blood-2010-02-267476. ISSN 0006-4971.
- ↑ 2.0 2.1 2.2 2.3 2.4 Tsd, Santos; et al. (2017). "Splenic Marginal Zone Lymphoma: A Literature Review of Diagnostic and Therapeutic Challenges". doi:10.1016/j.bjhh.2016.09.014. PMC 5457460. PMID 28577652.CS1 maint: PMC format (link)
- ↑ Shi, Xiaofeng; et al. (2018). "A rare case of B-lymphoproliferative disorder with villous lymphocytes harboring t(8;14)(q24;q32) translocation". Frontiers of Medicine. 12 (3): 324–329. doi:10.1007/s11684-017-0558-z. ISSN 2095-0217.
- ↑ Scapinello, Greta; et al. (2018). "Splenic marginal zone lymphoma with a de novo t(8;14)(q24;q32) and a prolymphocytoid evolution responsive to rituximab-bendamustine". Annals of Hematology. 97 (10): 2001–2003. doi:10.1007/s00277-018-3351-4. ISSN 0939-5555.
- ↑ Gindin, Tatyana; et al. (2015). "MLL / KMT2A translocations in diffuse large B-cell lymphomas: MLL / KMT2A translocations in diffuse large B-cell lymphomas". Hematological Oncology. 33 (4): 239–246. doi:10.1002/hon.2158.
- ↑ Remstein, E D; et al. (2008). "The prevalence of IG translocations and 7q32 deletions in splenic marginal zone lymphoma". Leukemia. 22 (6): 1268–1272. doi:10.1038/sj.leu.2405027. ISSN 0887-6924.
- ↑ Corcoran, M M; et al. (1999). "Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations". Oncogene. 18 (46): 6271–6277. doi:10.1038/sj.onc.1203033. ISSN 0950-9232.
- ↑ Parker, Edward; et al. (2011). "Molecular characterization of a t(2;7) translocation linking CDK6 to the IGK locus in CD5− monoclonal B-cell lymphocytosis". Cancer Genetics. 204 (5): 260–264. doi:10.1016/j.cancergen.2011.03.004.
- ↑ 9.0 9.1 Baseggio, Lucile; et al. (2012). "In non-follicular lymphoproliferative disorders, IGH/BCL2-fusion is not restricted to chronic lymphocytic leukaemia". British Journal of Haematology. 158 (4): 489–498. doi:10.1111/j.1365-2141.2012.09178.x.
- ↑ Nagel, Inga; et al. (2010). "Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies". Blood. 116 (8): 1317–1320. doi:10.1182/blood-2009-09-240440. ISSN 0006-4971.
- ↑ Kelly, Richard J.; et al. (2007). "The t(9;14)(p13;q32) is a recurrent but rare abnormality in splenic marginal zone lymphoma". Leukemia & Lymphoma. 48 (8): 1636–1637. doi:10.1080/10428190701474415. ISSN 1042-8194.
- ↑ Sole, F.; et al. (2006). "Translocation t(9;14)(p13;q32) in cases of splenic marginal zone lymphoma". Haematologica. 91 (9): 1289–1291. ISSN 0390-6078. PMID 16956840.
- ↑ K, Kawakami; et al. (1998). "A Case of Primary Splenic Large Cell Lymphoma With a t(9;14)(p13;q32)". PMID 9631587.
- ↑ Naseem, Shano; et al. (2020). "BRAF V600E mutation detection in hairy cell leukemia-utility of archival DNA from bone marrow aspirate/imprint smear and amplification refractory mutation system". Molecular Biology Reports. doi:10.1007/s11033-020-05509-0. ISSN 0301-4851.
- ↑ Streubel, Berthold; et al. (2003). "T(14;18)(q32;q21) involving IGH andMALT1 is a frequent chromosomal aberration in MALT lymphoma". Blood. 101 (6): 2335–2339. doi:10.1182/blood-2002-09-2963. ISSN 1528-0020.
- ↑ Fresquet, Vicente; et al. (2012). "High-throughput sequencing analysis of the chromosome 7q32 deletion reveals IRF5 as a potential tumour suppressor in splenic marginal-zone lymphoma". British Journal of Haematology. 158 (6): 712–726. doi:10.1111/j.1365-2141.2012.09226.x.
- ↑ 17.0 17.1 Baró, Cristina; et al. (2008). "New chromosomal alterations in a series of 23 splenic marginal zone lymphoma patients revealed by Spectral Karyotyping (SKY)". Leukemia Research. 32 (5): 727–736. doi:10.1016/j.leukres.2007.09.012.
- ↑ 18.0 18.1 Gruszka-Westwood, Alicja M.; et al. (2003). "Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes". Genes, Chromosomes and Cancer. 36 (1): 57–69. doi:10.1002/gcc.10142. ISSN 1045-2257.
- ↑ 19.0 19.1 Lobry, Camille; et al. (2011). "Oncogenic and tumor suppressor functions of Notch in cancer: it's NOTCH what you think". The Journal of Experimental Medicine. 208 (10): 1931–1935. doi:10.1084/jem.20111855. ISSN 1540-9538. PMC 3182047. PMID 21948802.CS1 maint: PMC format (link)
- ↑ Wang, Chunmei; et al. (2017). "Krüppel-like factor 2 suppresses human gastric tumorigenesis through inhibiting PTEN/AKT signaling". Oncotarget. 8 (59): 100358–100370. doi:10.18632/oncotarget.22229. ISSN 1949-2553. PMC 5725026. PMID 29245984.CS1 maint: PMC format (link)
- ↑ Jaramillo Oquendo, Carolina; et al. (2019). "Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma". Scientific Reports. 9 (1). doi:10.1038/s41598-019-46906-1. ISSN 2045-2322. PMC 6639539. PMID 31320741.CS1 maint: PMC format (link)
- ↑ Yamato, Azusa; et al. (2015). "Oncogenic activity of BIRC2 and BIRC3 mutants independent of nuclear factor-κB-activating potential". Cancer Science. 106 (9): 1137–1142. doi:10.1111/cas.12726. PMC 4582982. PMID 26094954.CS1 maint: PMC format (link)
- ↑ Cao, Qinghua; et al. (2018). "TBL1XR1 promotes migration and invasion in osteosarcoma cells and is negatively regulated by miR-186-5p". American Journal of Cancer Research. 8 (12): 2481–2493. ISSN 2156-6976. PMC 6325474. PMID 30662805.
- ↑ Arribas, Alberto J.; et al. (2015). "DNA methylation profiling identifies two splenic marginal zone lymphoma subgroups with different clinical and genetic features". Blood. 125 (12): 1922–1931. doi:10.1182/blood-2014-08-596247. ISSN 0006-4971. PMC 4416938. PMID 25612624.CS1 maint: PMC format (link)
- ↑ 25.0 25.1 Rossi, Davide; et al. (2012). "The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development". The Journal of Experimental Medicine. 209 (9): 1537–1551. doi:10.1084/jem.20120904. ISSN 1540-9538. PMC 3428941. PMID 22891273.CS1 maint: PMC format (link)
- ↑ Spina, Valeria; et al. (2016). "NF-κB deregulation in splenic marginal zone lymphoma". Seminars in Cancer Biology. 39: 61–67. doi:10.1016/j.semcancer.2016.08.002.
- ↑ Yan, Q.; et al. (2012). "BCR and TLR signaling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas". Haematologica. 97 (4): 595–598. doi:10.3324/haematol.2011.054080. ISSN 0390-6078. PMC 3347666. PMID 22102703.CS1 maint: PMC format (link)
- ↑ Rossi, Davide; et al. (2011). "Alteration of BIRC3 and multiple other NF-κB pathway genes in splenic marginal zone lymphoma". Blood. 118 (18): 4930–4934. doi:10.1182/blood-2011-06-359166. ISSN 0006-4971.
Notes
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