HAEM5:Plasma cell neoplasms with associated paraneoplastic syndrome: Difference between revisions

<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:POEMS Syndrome]].

<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>

==Definition / Description of Disease==

 

 

==Synonyms / Terminology==

 

 

==Clinical Features==

|'''Signs and Symptoms'''

|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)

 

 

 

<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)

|'''Laboratory Findings'''

|<span class="blue-text">EXAMPLE:</span> Cytopenias

 

!Finding!!Marker

|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1

|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2

|-

|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3

|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4

|}

<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}

Plasma cells in BM biopsy ranges from<5% to 60%. 95% of the cases have value <5%.<ref name=":6">{{Cite journal|last=Dispenzieri|first=Angela|date=2012-06-14|title=How I treat POEMS syndrome|url=https://doi.org/10.1182/blood-2012-03-378992|journal=Blood|volume=119|issue=24|pages=5650–5658|doi=10.1182/blood-2012-03-378992|issn=0006-4971|pmc=PMC3425020|pmid=22547581}}</ref>  Usually there are a combination of normal polyclonal plasma cells and monoclonal plasma cells. The monoclonal plasma cells stains positive for λ chains (IgA and IgG). <ref>{{Cite journal|last=Dao|first=Linda N.|last2=Hanson|first2=Curtis A.|last3=Dispenzieri|first3=Angela|last4=Morice|first4=William G.|last5=Kurtin|first5=Paul J.|last6=Hoyer|first6=James D.|date=2011-06-16|title=Bone marrow histopathology in POEMS syndrome: a distinctive combination of plasma cell, lymphoid, and myeloid findings in 87 patients|url=https://doi.org/10.1182/blood-2010-11-316935|journal=Blood|volume=117|issue=24|pages=6438–6444|doi=10.1182/blood-2010-11-316935|issn=0006-4971|pmc=PMC3123015|pmid=21385854}}</ref>

 

 

*CD138+ forms plasma cell rim around lymphoid aggregates

*Bright expression of CD45 and normal expression of CD19 in polytypic CD19 (Normal finding).

 

 

 

 

 

 

 

!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence

!Diagnostic Significance (Yes, No or Unknown)

!Prognostic Significance (Yes, No or Unknown)

|<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)

|Yes

|No

|Yes

|<span class="blue-text">EXAMPLE:</span>

 

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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:

* Gene Mutations (SNV/INDEL)}}

'''<u>MANAGEMENT</u>'''<ref name=":4" />

==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

 

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

 

|Yes

|No

 

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).

 

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

 

|No

|No

 

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

<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}

==Characteristic Chromosomal Patterns==

!Diagnostic Significance (Yes, No or Unknown)

!Prognostic Significance (Yes, No or Unknown)

!Therapeutic Significance (Yes, No or Unknown)

!Notes

|Yes

|No

|No

 

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=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}

==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

|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations

<span class="blue-text">EXAMPLE:</span>

 

EGFR; Exon 20 mutations

 

<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations

|<span class="blue-text">EXAMPLE:</span> TSG

|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)

 

<span class="blue-text">EXAMPLE:</span> 30% (add Reference)

|<span class="blue-text">EXAMPLE:</span> IDH1 R123H

|<span class="blue-text">EXAMPLE:</span> EGFR amplification

|}

Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

 

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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>

|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations

|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations

|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations

|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling

|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program

<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}

*Role of '''<u>VEGF</u>'''- Again, it is being hypothesized that VEGF (Vascular Endothelial Growth Factor) may lead to neovascularization leading to proliferation of small  blood vessels. It is important to note that disease activity correlates with VEGF levels even more than M proteins.<ref name=":6" />

(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted.''</span> <span style="color:#0070C0">''If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">) </span> <references />

[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases P]]