HAEM5:Diffuse large B-cell lymphoma, NOS: Difference between revisions
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{{DISPLAYTITLE:Diffuse large B-cell lymphoma, NOS}} | {{DISPLAYTITLE:Diffuse large B-cell lymphoma, NOS}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours ( | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
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}}</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) | <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). 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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==Clinical Features== | ==Clinical Features== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | ||
{| class="wikitable" | {| class="wikitable" | ||
|'''Signs and Symptoms''' | |'''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''' | |'''Laboratory Findings''' | ||
| | |EXAMPLE Cytopenias | ||
EXAMPLE Lymphocytosis (low level) | |||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}} | ||
The primary site of lymphoma, either the lymph node or extra nodal site, is important in assessing clinical features, treatment options and outcome of the disease. Clinical presentation of DLBCL can be variable, usually depends on the site of disease involvement, rapid growth rate, enlarged lymph nodes, extra nodal mass infiltrating into tissues or obstructing organs. The enlarged lymphomatous mass may also exert severe pain. Patients usually experience fever, drenching night sweats, weight loss, anorexia, pedal edema (due to extensive pelvic lymphadenopathy), fatigue, chest discomfort or shortness of breath due to mediastinal lymphadenopathy. Put your text here | The primary site of lymphoma, either the lymph node or extra nodal site, is important in assessing clinical features, treatment options and outcome of the disease. Clinical presentation of DLBCL can be variable, usually depends on the site of disease involvement, rapid growth rate, enlarged lymph nodes, extra nodal mass infiltrating into tissues or obstructing organs. The enlarged lymphomatous mass may also exert severe pain. Patients usually experience fever, drenching night sweats, weight loss, anorexia, pedal edema (due to extensive pelvic lymphadenopathy), fatigue, chest discomfort or shortness of breath due to mediastinal lymphadenopathy. Put your text here | ||
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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 | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Finding!!Marker | !Finding!!Marker | ||
|- | |- | ||
|Positive (universal)|| | |Positive (universal)||EXAMPLE CD1 | ||
|- | |- | ||
|Positive (subset)|| | |Positive (subset)||EXAMPLE CD2 | ||
|- | |- | ||
|Negative (universal)|| | |Negative (universal)||EXAMPLE CD3 | ||
|- | |- | ||
|Negative (subset)|| | |Negative (subset)||EXAMPLE 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) | ||
EXAMPLE 30% (add reference) | |||
|Yes | |Yes | ||
|No | |No | ||
|Yes | |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). | 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 class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in: | ||
* Chromosomal Rearrangements (Gene Fusions) | * Chromosomal Rearrangements (Gene Fusions) | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
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==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 | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE | ||
7 | 7 | ||
| | |EXAMPLE Loss | ||
| | |EXAMPLE | ||
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
| | |EXAMPLE | ||
chr7 | chr7 | ||
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|Yes | |Yes | ||
|No | |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). | 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 | 8 | ||
| | |EXAMPLE Gain | ||
| | |EXAMPLE | ||
chr8:1-145,138,636 [hg38] | chr8:1-145,138,636 [hg38] | ||
| | |EXAMPLE | ||
chr8 | chr8 | ||
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|No | |No | ||
|No | |No | ||
| | |EXAMPLE | ||
Common recurrent secondary finding for t(8;21) (add reference). | Common recurrent secondary finding for t(8;21) (add reference). | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | ||
'''AMPLIFICATION''': BCL2, REL, CD274, PDCD1LG2, JAK2, KRAs, TBL1XR1, RB1 | '''AMPLIFICATION''': BCL2, REL, CD274, PDCD1LG2, JAK2, KRAs, TBL1XR1, RB1 | ||
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!Chromosome Number!!Gain/Loss/Amp/LOH!!Region | !Chromosome Number!!Gain/Loss/Amp/LOH!!Region | ||
|- | |- | ||
| | |EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000 | ||
|- | |- | ||
| | |EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000 | ||
|} | |} | ||
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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 | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE | ||
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
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|No | |No | ||
|No | |No | ||
| | |EXAMPLE: | ||
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). | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | ||
Due to the clinicopathologic, biological and genetic diversity, DLBCL is sub divided into morphological variants and molecular subtypes. Initial workup and evaluation of DLBCL has become increasingly complex partly due to the genetic abnormalities that are targets for specific therapy and play an important role in monitoring residual disease. Genomic studies help in clinical management, risk stratification, enrolling patients onto treatment protocols, clinical trials, and detection of therapeutic targets. GS, If IHC is positive for GCB like DLBCL, FISH and Cytogenetics for MYC, BCL2 or BCL6 gene rearrangement are recommended to rule out double and triple hit lymphoma. | Due to the clinicopathologic, biological and genetic diversity, DLBCL is sub divided into morphological variants and molecular subtypes. Initial workup and evaluation of DLBCL has become increasingly complex partly due to the genetic abnormalities that are targets for specific therapy and play an important role in monitoring residual disease. Genomic studies help in clinical management, risk stratification, enrolling patients onto treatment protocols, clinical trials, and detection of therapeutic targets. GS, If IHC is positive for GCB like DLBCL, FISH and Cytogenetics for MYC, BCL2 or BCL6 gene rearrangement are recommended to rule out double and triple hit lymphoma. | ||
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==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 | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE: TP53; Variable LOF mutations | ||
EXAMPLE: | |||
EGFR; Exon 20 mutations | 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). | ||
<br /> | <br /> | ||
|} | |} | ||
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<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}} | ||
'''SNV''' : MLL2, TP53, MYD88, B2M, CREBBP, TNFAIP3, PIM1, BCL2, EZH2, TNFRSF14, CD79B | '''SNV''' : MLL2, TP53, MYD88, B2M, CREBBP, TNFAIP3, PIM1, BCL2, EZH2, TNFRSF14, CD79B | ||
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!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other) | !Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other) | ||
|- | |- | ||
| | |EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20% | ||
|} | |} | ||
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!Type!!Gene/Region/Other | !Type!!Gene/Region/Other | ||
|- | |- | ||
|Concomitant Mutations|| | |Concomitant Mutations||EXAMPLE IDH1 R123H | ||
|- | |- | ||
|Secondary Mutations|| | |Secondary Mutations||EXAMPLE Trisomy 7 | ||
|- | |- | ||
|Mutually Exclusive|| | |Mutually Exclusive||EXAMPLE EGFR Amplification | ||
|} | |} | ||
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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 | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the 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 | ||
| | |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 | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}} | ||
B-Cell differentiation, TP53 pathway, NF-kB pathway, Apoptosis, Cell migration, Immune response,BCR-MYD88 signaling, PI3K-AKT-mTCR pathway | B-Cell differentiation, TP53 pathway, NF-kB pathway, Apoptosis, Cell migration, Immune response,BCR-MYD88 signaling, PI3K-AKT-mTCR pathway | ||
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==Links== | ==Links== | ||
Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: | Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: Once you have a text placeholder entered to which you want to add a link, highlight that text, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address including the "<nowiki>http://www</nowiki>." portion.'')</span> | ||
==References== | ==References== | ||