Compendium of Cancer Genome Aberrations

HAEM5:Kikuchi-Fujimoto disease: Difference between revisions

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{{DISPLAYTITLE:Kikuchi-Fujimoto disease}}
{{DISPLAYTITLE:Kikuchi-Fujimoto disease}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


{{Under Construction}}
==Primary Author(s)*==
==Primary Author(s)*==


Put your text here<span style="color:#0070C0"> (''Name and affiliation; example:'' Jane Smith, PhD, Institute of Genomics) </span>
Sumire Kitahara, MD
==WHO Classification of Disease==


__TOC__
==Cancer Category/Type==
Put your text here
==Cancer Sub-Classification / Subtype==
Put your text here
==Definition / Description of Disease==
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </span>
==Synonyms / Terminology==
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
==Epidemiology / Prevalence==
Put your text here
==Clinical Features==
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'''
!Structure
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
!Disease
 
EXAMPLE B-symptoms (weight loss, fever, night sweats)
 
EXAMPLE Fatigue
 
EXAMPLE Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|EXAMPLE Cytopenias
 
EXAMPLE Lymphocytosis (low level)
|}
 
==Sites of Involvement==
 
Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow'') </span>
 
==Morphologic Features==
 
Put your text here
 
==Immunophenotype==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
 
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
|Book
|Haematolymphoid Tumours (5th ed.)
|-
|-
|Positive (universal)||EXAMPLE CD1
|Category
|T-cell and NK-cell lymphoid proliferations and lymphomas
|-
|-
|Positive (subset)||EXAMPLE CD2
|Family
|Tumour-like lesions with T-cell predominance
|-
|-
|Negative (universal)||EXAMPLE CD3
|Type
|N/A
|-
|-
|Negative (subset)||EXAMPLE CD4
|Subtype(s)
|Kikuchi-Fujimoto disease
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==
==Related Terminology==


Put your text here and fill in the table
{| class="wikitable"
|+
|Acceptable
|Histiocytic necrotizing lymphadenitis; Kikuchi disease; Kikuchi lymphadenitis
|-
|Not Recommended
|N/A
|}


==Gene Rearrangements==
<big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
!Diagnostic Significance (Yes, No or Unknown)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prognostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Therapeutic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Notes
!Clinical Relevance Details/Other Notes
|-
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
|N/A
EXAMPLE 30% (add reference)
|N/A
|Yes
|N/A
|No
|N/A
|Yes
|N/A
|EXAMPLE
|N/A
 
|N/A
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).
|N/A
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
 
<big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big>
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"
|-
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!Diagnostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Prognostic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Therapeutic Significance (Yes, No or Unknown)
!Clinical Relevance Details/Other Notes
!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
|N/A
 
|N/A
8
|N/A
|EXAMPLE Gain
|N/A
|EXAMPLE
|N/A
 
|N/A
chr8:1-145,138,636 [hg38]
|N/A
|EXAMPLE
 
chr8
|No
|No
|No
|EXAMPLE
 
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
 
<big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big>
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"
|-
|-
!Chromosomal Pattern
!Chromosomal Pattern
!Diagnostic Significance (Yes, No or Unknown)
!Molecular Pathogenesis
!Prognostic Significance (Yes, No or Unknown)
!Prevalence -
!Therapeutic Significance (Yes, No or Unknown)
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Notes
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|EXAMPLE
|N/A
 
|N/A
Co-deletion of 1p and 18q
|N/A
|Yes
|N/A
|No
|N/A
|No
|N/A
|EXAMPLE:
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
 
<big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big>  
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"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
!'''Diagnostic Significance (Yes, No or Unknown)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prognostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!Therapeutic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Notes
!Clinical Relevance Details/Other Notes
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|N/A
 
|N/A
EXAMPLE:
|N/A
 
|N/A
EGFR; Exon 20 mutations
|N/A
 
|N/A
EXAMPLE: BRAF; Activating mutations
|N/A
|EXAMPLE: TSG
|EXAMPLE: 20% (COSMIC)
 
EXAMPLE: 30% (add Reference)
|EXAMPLE: IDH1 R123H
|EXAMPLE: EGFR amplification
|
|
|
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
<br />
|}
|}
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==
==Epigenomic Alterations==
 
N/A
Put your text here
 
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
 
<big>While KFD does not have characteristic or recurrent genetic alterations, a</big> <big>study using exome and transcriptome sequencing of lymph node tissue samples from KFD patients found fourteen</big> <big>SNPs</big> <big>as possible candidate markers for the disease and hundreds of genes with altered expression involving immune system, chromatin remodeling, and transcription pathways.</big><ref>{{Cite journal|last=Anuntakarun|first=Songtham|last2=Larbcharoensub|first2=Noppadol|last3=Payungporn|first3=Sunchai|last4=Reamtong|first4=Onrapak|date=2021-06|title=Identification of genes associated with Kikuchi-Fujimoto disease using RNA and exome sequencing|url=https://pubmed.ncbi.nlm.nih.gov/33819568|journal=Molecular and Cellular Probes|volume=57|pages=101728|doi=10.1016/j.mcp.2021.101728|issn=1096-1194|pmid=33819568}}</ref>
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
|N/A
|EXAMPLE: MAPK signaling
|N/A
|EXAMPLE: Increased cell growth and proliferation
|N/A
|-
|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==
==Genetic Diagnostic Testing Methods==
 
<big>Genetic testing is non-contributory to rule-in a diagnosis of Kikuchi-Fujimoto disease. If the morphology and immunophenotype raise concern for lymphoma, particularly of T-lineage, genetic testing (e.g. T-cell receptor gene rearrangement, cytogenetic and/or NGS studies) may play a role.</big>
Put your text here


==Familial Forms==
==Familial Forms==
 
<big>Some reports describe HLA class II associations (e.g., HLA-DPA1 and HLA-DPB1 polymorphisms)</big><ref>{{Cite journal|last=Tanaka|first=T.|last2=Ohmori|first2=M.|last3=Yasunaga|first3=S.|last4=Ohshima|first4=K.|last5=Kikuchi|first5=M.|last6=Sasazuki|first6=T.|date=1999-09|title=DNA typing of HLA class II genes (HLA‐DR, ‐DQ and ‐DP) in Japanese patients with histiocytic necrotizing lymphadenitis (Kikuchi’s disease)|url=https://onlinelibrary.wiley.com/doi/10.1034/j.1399-0039.1999.540305.x|journal=Tissue Antigens|language=en|volume=54|issue=3|pages=246–253|doi=10.1034/j.1399-0039.1999.540305.x|issn=0001-2815}}</ref> <big>in certain populations</big><big>, suggesting a genetic susceptibility</big> <big>and rare reports in siblings suggest familial susceptibility</big><big>.</big><ref>{{Cite journal|last=Isoda|first=Atsushi|last2=Tahara|first2=Kenichi|last3=Ide|first3=Munenori|date=2023-12|title=Kikuchi-Fujimoto Disease in Human Leukocyte Antigen Partially Matched Siblings: A Case Study of Familial Susceptibility|url=https://pubmed.ncbi.nlm.nih.gov/38264372|journal=Cureus|volume=15|issue=12|pages=e51010|doi=10.7759/cureus.51010|issn=2168-8184|pmc=10803893|pmid=38264372}}</ref>  
Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>


==Additional Information==
==Additional Information==
 
<big>Most published studies indicate a reactive, immune-mediated process rather than a neoplastic one.</big><ref>{{Cite journal|last=Li|first=Elizabeth Y.|last2=Xu|first2=Jason|last3=Nelson|first3=Nya D.|last4=Teachey|first4=David T.|last5=Tan|first5=Kai|last6=Romberg|first6=Neil|last7=Behrens|first7=Ed|last8=Pillai|first8=Vinodh|date=2022-04|title=Kikuchi-Fujimoto disease is mediated by an aberrant type I interferon response|url=https://pubmed.ncbi.nlm.nih.gov/34952944|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=35|issue=4|pages=462–469|doi=10.1038/s41379-021-00992-7|issn=1530-0285|pmid=34952944}}</ref>
Put your text here


==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: 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>
<big>N/A</big>


==References==
==References==
(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 />
<references />
 
==Notes==
'''EXAMPLE Book'''
<nowiki>*</nowiki>''Citation of this Page'': Kitahara S. “Kikuchi-Fujimoto disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Kikuchi-Fujimoto_disease</nowiki>.


#Arber DA, 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, p129-171.


==Notes==
<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 [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.
<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 K]]
<nowiki>*</nowiki>''Citation of this Page'': “Kikuchi-Fujimoto disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Kikuchi-Fujimoto_disease</nowiki>.[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases K]]
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