Difference between revisions of "HAEM5:Lymphoplasmacytic lymphoma"

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{{DISPLAYTITLE:Lymphoplasmacytic lymphoma}}
 
{{DISPLAYTITLE:Lymphoplasmacytic 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.)]]
  
 
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Lymphoplasmacytic 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:Lymphoplasmacytic Lymphoma]].
 
Other relevent pages include: [[HAEM4:Waldenstrom Macroglobulinemia]]
 
Other relevent pages include: [[HAEM4:Waldenstrom Macroglobulinemia]]
  
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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). 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>
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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__
 
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==Cancer Category / Type==
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==WHO Classification of Disease==
  
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Low-grade mature B-cell neoplasm<ref name=":0">Vardiman JW, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, 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, p232-235</ref><ref name=":2">{{Cite journal|last=Varettoni|first=Marzia|last2=Boveri|first2=Emanuela|last3=Zibellini|first3=Silvia|last4=Tedeschi|first4=Alessandra|last5=Candido|first5=Chiara|last6=Ferretti|first6=Virginia Valeria|last7=Rizzo|first7=Ettore|last8=Doni|first8=Elisa|last9=Merli|first9=Michele|date=2019-11|title=Clinical and molecular characteristics of lymphoplasmacytic lymphoma not associated with an IgM monoclonal protein: A multicentric study of the Rete Ematologica Lombarda (REL) network|url=https://pubmed.ncbi.nlm.nih.gov/31378966|journal=American Journal of Hematology|volume=94|issue=11|pages=1193–1199|doi=10.1002/ajh.25600|issn=1096-8652|pmid=31378966}}</ref>
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!Structure
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==Cancer Sub-Classification / Subtype==
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!Disease
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Non-Hodgkin small B-cell lymphoma<ref name=":0" /><ref>{{Cite journal|last=Vajdic|first=Claire M.|last2=Landgren|first2=Ola|last3=McMaster|first3=Mary L.|last4=Slager|first4=Susan L.|last5=Brooks-Wilson|first5=Angela|last6=Smith|first6=Alex|last7=Staines|first7=Anthony|last8=Dogan|first8=Ahmet|last9=Ansell|first9=Stephen M.|date=2014-08|title=Medical history, lifestyle, family history, and occupational risk factors for lymphoplasmacytic lymphoma/Waldenström's macroglobulinemia: the InterLymph Non-Hodgkin Lymphoma Subtypes Project|url=https://pubmed.ncbi.nlm.nih.gov/25174029|journal=Journal of the National Cancer Institute. Monographs|volume=2014|issue=48|pages=87–97|doi=10.1093/jncimonographs/lgu002|issn=1745-6614|pmc=4155457|pmid=25174029}}</ref>
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|Book
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|Haematolymphoid Tumours (5th ed.)
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|Category
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|B-cell lymphoid proliferations and lymphomas
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|Family
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|Mature B-cell neoplasms
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|Type
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|N/A
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|-
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|Subtype(s)
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|Lymphoplasmacytic lymphoma
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|}
  
 
==Definition / Description of Disease==
 
==Definition / Description of Disease==
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
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==Genetic Diagnostic Testing Methods==
 
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==Links==
 
==Links==
  
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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>
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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: Highlight text to which you want to add a link in this section or elsewhere, 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 by including the "<nowiki>http://www</nowiki>." portion.'')</span>
  
 
==References==
 
==References==

Latest revision as of 17:27, 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:Lymphoplasmacytic Lymphoma.

Other relevent pages include: HAEM4:Waldenstrom Macroglobulinemia

Note: author needs to coorelate with Waldenstrom Macroglobulinemia

(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)*

Kapitolina Semenova, MD, Jack Reid, MD, Fabiola Quintero-Rivera, MD

Departments of Pathology, Laboratory Medicine, and *Pediatrics, Division of Genetic and Genomic Medicine, University of California, Irvine (UCI)

WHO Classification of Disease

Structure Disease
Book Haematolymphoid Tumours (5th ed.)
Category B-cell lymphoid proliferations and lymphomas
Family Mature B-cell neoplasms
Type N/A
Subtype(s) Lymphoplasmacytic lymphoma

Definition / Description of Disease

  • Lymphoplasmacytic lymphoma (LPL) is a neoplasm of small B lymphocytes, plasmacytoid lymphocytes, and plasma cells, usually involving bone marrow and spleen, which does not fulfil the criteria for any of the other small B-cell lymphoid neoplasms, that can have plasmacytic differentiation. [1]
  • Based on the presence of the bone marrow involvement and the presence of paraprotein, LPL is categorized into Waldenström macroglobulinemia and LPL of non-Waldenström macroglobulinemia. [2]
  • The majority of cases of LPL lymphoma are associated with IgM paraprotein secretion (Waldenström macroglobulinemia), with less than 5% of cases attributed to IgA, IgG, and nonsecreting cases of LPL. [3]

Synonyms / Terminology

Malignant lymphoma, lymphoplasmacytoid lymphoma.[1]

Epidemiology / Prevalence

  • Lymphoplasmacytic lymphoma, in approximately 95% of cases, occurs in patients of Caucasian descent. [2]
  • The median age is in the seventh decade of life. [1][2]
  • Approximately 1000-1500 new cases are diagnosed yearly in the United States.
  • LPL associated with IgM (Waldenström macroglobulinemia) is more commonly occurs in male patients, while LPL with a non-IgM is reported more frequently in females. [4]

Clinical Features

Signs and Symptoms Weakness (usually related to anemia)

Fatigue

Hyperviscosity (in 30% of cases)

Lymphadenopathy and splenomegaly (in 10-20% of patient at time of diagnosis)

Paraprotein deposition in tissues with organ-specific dysfunction:

  • Neuropathy (minority of patients; may be related to the IgM paraprotein with myelin sheath antigens)
  • Diarrhea (rare, due to paraprotein deposition in gastrointestinal tract)
  • Coagulopathy (may be cause by IgM binding to clotting factors)
  • Bullae or papules in the skin
  • Proteinuria and renal failure
Laboratory Findings IgM paraprotein

IgM and IgG paraprotein (minority of patients)

Cold agglutinins

Cryoglobulinemia


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

[1][2]

Sites of Involvement

  • Bone marrow (most of cases), lymph nodes, spleen, liver, and other extranodal sites. The peripheral blood may also be involved.
  • Rare involvement of CNS associated with Waldenström macroglobulinemia (known as Bing-Neel syndrome). Lymphoplasmacytic lymphoma may occur at sites typically involved by extranodal marginal zone lymphoma (MZL) of mucosal-associated lymphoid tissue (MALT lymphoma), such as the ocular adnexa. [1][2]
  • Patients with non-IgM LPL are more likely to present with extramedullary involvement such as lymphadenopathy, splenomegaly, or extranodal disease. [4]
  • Bone marrow involvement is more common in patients with IgM-associated LPL (Waldenström macroglobulinemia) when compared to non-IgM LPL. [4]

Morphologic Features

  • Bone marrow involvement is characterized by diffuse, interstitial, and nodular infiltration patterns. Paratrabecular can also be present; however, it has been observed more frequently in cases of marginal zone lymphoma.
  • The infiltrate is characterized by small monotonous lymphocytes admixed with a variable amount of plasmacytoid lymphocytes and plasma cells. Although nonspecific, variable amount of reactive mast cell and hemosiderin deposits are frequently observed. Dutcher bodies (nuclear vacuoles containing IgM protein) and Russell bodies (cytoplasmic inclusion) are often seen similarly in multiple myeloma cases. [1]
  • Peripheral blood often demonstrates lymphoma cells with similar morphology. Leukocytosis is not typically observed. Peripheral blood may also demonstrate a rouleaux formation due to increased IgM paraprotein.

Immunophenotype

Put your text here and fill in the table

Finding Marker
Positive (subset) IgM
Positive (subset) IgG
Positive (subset) IgA
Positive (universal) CD19
Positive (universal) CD20
Positive (universal) CD22 (dim)
Positive (universal) CD25
Positive (universal) CD79a
Positive (universal) CD45
Positive (variable) CD38
Positive (universal) PAX5
Positive (subset) CD5
Positive (subset) CD10
Positive (subset) TCL1
Negative (universal) Cyclin D1
Negative (universal) LEF1
Negative (universal) EBV stain
Negative (universal) CD56
Negative (universal) CD117


editUnassigned References
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[2]

Chromosomal Rearrangements (Gene Fusions)

No specific chromosomal abnormalities are identified in LPL.

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
t(9:14)(p13:q32) IGH/PAX5 rare Yes No No


editUnassigned References
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[1][2]

Individual Region Genomic Gain / Loss / LOH

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:

Characteristic Chromosomal Patterns

Put your text here

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


Gene Mutations (SNV / INDEL)


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
MYD88 L265; Activating mutation >90% Yes Yes Yes This is also seen in some non-germinal centre subtype DLBCL, NOS, primary cutaneous DLBCL, leg type, and primary CNS and testicular DLBCL cases.


Cases lacking MYDBB L265P mutation are reported to have an adverse prognosis and a lower response to ibrutinib.

CXCR4 S338X or or frameshift mutations 30% Yes Yes Cases with nonsense mutations, has been associated with more symptomatic/active disease, other clinical and laboratory findings, and greater resistance to ibrutinib and possibly other therapeutic agents.


Mutations are similar to those seen in the syndrome of warts, hypogammaglobulinaemia, immunodeficiency, and myelokathexis (WHIM syndrome).


Mutations in this gene are also present in a very small proportion of other small B-cell lymphomas.

ARID1A 17%

Less commonly, other somatic mutations, such as mutations of TP53, CD79B, KMT20 (previously designated MLL2), and MYBBP1A


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.

Epigenomic Alterations

Put your text here

Genes and Main Pathways Involved

Put your text here and fill in the 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

Genetic Diagnostic Testing Methods

Put your text here

Familial Forms

Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)

Additional Information

Put your text here

Links

Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page (Instructions: Highlight text to which you want to add a link in this section or elsewhere, 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 by including the "http://www." portion.)

References

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Cite error: Invalid <ref> tag; no text was provided for refs named :0
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 Wang, Wei; et al. (2020-01). "Lymphoplasmacytic lymphoma and Waldenström macroglobulinaemia: clinicopathological features and differential diagnosis". Pathology. 52 (1): 6–14. doi:10.1016/j.pathol.2019.09.009. ISSN 1465-3931. PMID 31767130. Check date values in: |date= (help)
  3. ↑ Hunter, Zachary R.; et al. (2017-03-20). "Genomics, Signaling, and Treatment of Waldenström Macroglobulinemia". Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 35 (9): 994–1001. doi:10.1200/JCO.2016.71.0814. ISSN 1527-7755. PMID 28294689.
  4. ↑ 4.0 4.1 4.2 Cite error: Invalid <ref> tag; no text was provided for refs named :2

(use "Cite" icon at top of page

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.


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

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