{"title":"Recurrent Aortic Thromboembolism Associated With <i>TET2</i> Mutation in Chronic Myelomonocytic Leukemia.","authors":"Syed Bukhari, Ammar Saati, Batool Abuhalimeh, Geoffrey Ouma","doi":"10.1177/23247096231224366","DOIUrl":null,"url":null,"abstract":"<p><p>Ten-eleven translocation 2 (<i>TET2</i>) plays a pivotal role in epigenetic regulation, cell differentiation, and the inflammatory response. It also mediates the transcriptional regulation for inflammatory cytokines, particularly interleukin-6. While loss-of-function mutation in <i>TET2</i> has been associated with hematological malignancies, it has been increasingly recognized to cause atherosclerotic disease. The increased atherogenicity is thought to be the result of increased production of pro-inflammatory interleukin-1β cytokines following activation of NLRP3 inflammasomes. We present a unique case of recurrent atherothrombosis in an elderly man who was diagnosed with chronic myelomonocytic leukemia in the setting of <i>TET2</i> mutation.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231224366"},"PeriodicalIF":0.9000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10787530/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of investigative medicine high impact case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/23247096231224366","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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Abstract
Ten-eleven translocation 2 (TET2) plays a pivotal role in epigenetic regulation, cell differentiation, and the inflammatory response. It also mediates the transcriptional regulation for inflammatory cytokines, particularly interleukin-6. While loss-of-function mutation in TET2 has been associated with hematological malignancies, it has been increasingly recognized to cause atherosclerotic disease. The increased atherogenicity is thought to be the result of increased production of pro-inflammatory interleukin-1β cytokines following activation of NLRP3 inflammasomes. We present a unique case of recurrent atherothrombosis in an elderly man who was diagnosed with chronic myelomonocytic leukemia in the setting of TET2 mutation.
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The AFMR is committed to enhancing the training and career development of our members and to furthering its mission to facilitate the conduct of research to improve medical care. Case reports represent an important avenue for trainees (interns, residents, and fellows) and early-stage faculty to demonstrate productive, scholarly activity.
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