HAEM5:Gamma heavy chain disease: 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:Gamma Heavy Chain Disease]].

<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==

|'''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

 

 

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

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

==Immunophenotype==

!Finding!!Marker

|Positive (B-cell lineage marker)||CD19, CD20, CD79a, IgG (cytoplasmic) without light chain

|Positive-Plasmacytoid cells||MUM1/IRF4

|Positive-Plasma cells

|-

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<center><span style="color:Maroon">'''End of V4 Section'''</span>

----

</blockquote>

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)

|<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>

 

|}

<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>

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

* N/A

<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.}}</blockquote><ref name=":4">{{Cite journal|last=Singer|first=Sara|last2=Efebera|first2=Yvonne|last3=Bumma|first3=Naresh|last4=Khan|first4=Abdullah|last5=Devarakonda|first5=Srinivas|last6=Chaudhry|first6=Maria|last7=Benson|first7=Don|last8=Rosko|first8=Ashley E.|date=2020-08|title=Heavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders|url=https://pubmed.ncbi.nlm.nih.gov/32245744|journal=Clinical Lymphoma, Myeloma & Leukemia|volume=20|issue=8|pages=493–498|doi=10.1016/j.clml.2020.02.020|issn=2152-2669|pmid=32245744}}</ref><blockquote class="blockedit">

==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.}}</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.}}</blockquote><ref name=":1" /><ref name=":5" /><blockquote class="blockedit">

==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.}}</blockquote>

==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.

 

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.}}</blockquote>

* N/A

<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.}}</blockquote><ref>{{Cite journal|last=Mrosewski|first=Ingo|last2=Urbank|first2=Matthias|date=2020-01-01|title=Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature|url=https://pubmed.ncbi.nlm.nih.gov/32013371|journal=Clinical Laboratory|volume=66|issue=1|doi=10.7754/Clin.Lab.2019.190623|issn=1433-6510|pmid=32013371}}</ref><ref>{{Cite journal|last=Thoren|first=Katie L.|last2=Eveillard|first2=Marion|last3=Chan|first3=Patrick|last4=Doddi|first4=Sital|last5=Cho|first5=Sun|last6=Murata|first6=Kazunori|date=2020-03|title=Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry|url=https://pubmed.ncbi.nlm.nih.gov/31884198|journal=Clinical Biochemistry|volume=77|pages=57–61|doi=10.1016/j.clinbiochem.2019.12.010|issn=1873-2933|pmc=7046309|pmid=31884198}}</ref><ref>{{Cite journal|last=Ho|first=Y. H.|last2=Wang|first2=J. L.|last3=DeLelys|first3=M. E.|last4=Murali|first4=M. R.|last5=Pitman|first5=M. B.|last6=Sohani|first6=A. R.|date=2014-08|title=Gamma heavy chain disease: cytological diagnosis of a rare  lymphoid malignancy facilitated by correlation with key  laboratory findings|url=https://pubmed.ncbi.nlm.nih.gov/25180407|journal=Cytopathology: Official Journal of the British Society for Clinical Cytology|volume=25|issue=4|pages=270–273|doi=10.1111/cyt.12126|issn=1365-2303|pmid=25180407}}</ref><blockquote class="blockedit">

<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.}}</blockquote><ref name=":4" /><blockquote class="blockedit">

* None

(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 />

<nowiki>*</nowiki>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.

[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases G]]