HAEM5:Kikuchi-Fujimoto disease: Difference between revisions
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==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
<big>Kikuchi-Fujimoto disease does '''not have characteristic or recurrent genetic alterations'''.</big> | <big>Kikuchi-Fujimoto disease (KFD) does '''not have characteristic or recurrent genetic alterations'''.</big> | ||
<big>However, | <big>However, a study using exome and transcriptome sequencing of lymph node tissue samples from KFD patients found fourteen '''single nucleotide polymorphisms''' as possible candidate markers for the disease and hundreds of genes with altered expression involving immune system, chromatin remodeling, 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> | ||
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==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> | |||
==Additional Information== | ==Additional Information== | ||
<big>Most published studies indicate a '''reactive, immune-mediated process''' rather than a neoplastic one. | <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> | ||
==Links== | ==Links== | ||
Revision as of 20:00, 6 November 2025
Haematolymphoid Tumours (WHO Classification, 5th ed.)
Primary Author(s)*
Sumire Kitahara, MD
WHO Classification of Disease
| Structure | Disease |
|---|---|
| Book | Haematolymphoid Tumours (5th ed.) |
| Category | T-cell and NK-cell lymphoid proliferations and lymphomas |
| Family | Tumour-like lesions with T-cell predominance |
| Type | N/A |
| Subtype(s) | Kikuchi-Fujimoto disease |
Related Terminology
| Acceptable | Histiocytic necrotizing lymphadenitis; Kikuchi disease; Kikuchi lymphadenitis |
| Not Recommended | N/A |
Gene Rearrangements
Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.
| Driver Gene | Fusion(s) and Common Partner Genes | Molecular Pathogenesis | Typical Chromosomal Alteration(s) | Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease) | Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|---|
| NA |
Individual Region Genomic Gain/Loss/LOH
Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.
| Chr # | Gain, Loss, Amp, LOH | Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size] | Relevant Gene(s) | Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|
| NA |
Characteristic Chromosomal or Other Global Mutational Patterns
Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.
| Chromosomal Pattern | Molecular Pathogenesis | Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|
| NA |
Gene Mutations (SNV/INDEL)
Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.
| Gene | Genetic Alteration | Tumor Suppressor Gene, Oncogene, Other | Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|
| NA |
Epigenomic Alterations
NA
Genes and Main Pathways Involved
Kikuchi-Fujimoto disease (KFD) does not have characteristic or recurrent genetic alterations.
However, a study using exome and transcriptome sequencing of lymph node tissue samples from KFD patients found fourteen single nucleotide polymorphisms as possible candidate markers for the disease and hundreds of genes with altered expression involving immune system, chromatin remodeling, transcription pathways.[1]
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
| NA |
Genetic Diagnostic Testing Methods
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.
Familial Forms
Some reports describe HLA class II associations (e.g., HLA-DPA1 and HLA-DPB1 polymorphisms)[2] in certain populations, suggesting a genetic susceptibility and rare reports in siblings suggest familial susceptibility.[3]
Additional Information
Most published studies indicate a reactive, immune-mediated process rather than a neoplastic one.[4]
Links
NA
References
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 Associate Editor 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.
*Citation of this Page: “Kikuchi-Fujimoto disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 11/6/2025, https://ccga.io/index.php/HAEM5:Kikuchi-Fujimoto_disease.
- ↑ Anuntakarun, Songtham; et al. (2021-06). "Identification of genes associated with Kikuchi-Fujimoto disease using RNA and exome sequencing". Molecular and Cellular Probes. 57: 101728. doi:10.1016/j.mcp.2021.101728. ISSN 1096-1194. PMID 33819568 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ Tanaka, T.; et al. (1999-09). "DNA typing of HLA class II genes (HLA‐DR, ‐DQ and ‐DP) in Japanese patients with histiocytic necrotizing lymphadenitis (Kikuchi's disease)". Tissue Antigens. 54 (3): 246–253. doi:10.1034/j.1399-0039.1999.540305.x. ISSN 0001-2815. Check date values in:
|date=(help) - ↑ Isoda, Atsushi; et al. (2023-12). "Kikuchi-Fujimoto Disease in Human Leukocyte Antigen Partially Matched Siblings: A Case Study of Familial Susceptibility". Cureus. 15 (12): e51010. doi:10.7759/cureus.51010. ISSN 2168-8184. PMC 10803893 Check
|pmc=value (help). PMID 38264372 Check|pmid=value (help). Check date values in:|date=(help) - ↑ Li, Elizabeth Y.; et al. (2022-04). "Kikuchi-Fujimoto disease is mediated by an aberrant type I interferon response". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 35 (4): 462–469. doi:10.1038/s41379-021-00992-7. ISSN 1530-0285. PMID 34952944 Check
|pmid=value (help). Check date values in:|date=(help)