HAEM5:Kikuchi-Fujimoto disease: Difference between revisions
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==Gene Rearrangements== | ==Gene Rearrangements== | ||
<big>Kikuchi-Fujimoto disease does | <big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big> | ||
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
<big>Kikuchi-Fujimoto disease does | <big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big> | ||
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==Characteristic Chromosomal or Other Global Mutational Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
<big>Kikuchi-Fujimoto disease does | <big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big> | ||
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
<big>Kikuchi-Fujimoto disease does | <big>Kikuchi-Fujimoto disease does not have characteristic or recurrent genetic alterations.</big> | ||
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
N/A | |||
==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
<big> | <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> | ||
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
<big>Genetic testing is non-contributory to rule-in a diagnosis of Kikuchi-Fujimoto disease. T-cell receptor gene rearrangement and/or NGS studies may play a role | <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> | ||
==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 | <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== | ||
<big> | <big>N/A</big> | ||
==References== | ==References== | ||
<references /> | |||
==Notes== | ==Notes== | ||
<nowiki>*</nowiki> | <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>. | ||
<nowiki>*</nowiki> | <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. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases K]] | [[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases K]] | ||