与慢性粒单核细胞白血病 TET2 基因突变有关的复发性主动脉血栓栓塞症

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI:10.1177/23247096231224366

Syed Bukhari, Ammar Saati, Batool Abuhalimeh, Geoffrey Ouma

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引用次数: 0

摘要

十-十一转位 2（TET2）在表观遗传调节、细胞分化和炎症反应中起着关键作用。它还介导炎症细胞因子（尤其是白细胞介素-6）的转录调节。虽然 TET2 的功能缺失突变与血液恶性肿瘤有关，但越来越多的人认识到它会导致动脉粥样硬化疾病。动脉粥样硬化性的增加被认为是白细胞介素-1β细胞因子在激活NLRP3炎性体后产生促炎性白细胞介素-1β细胞因子增加的结果。我们介绍了一例独特的复发性动脉粥样硬化血栓形成病例，患者是一名老年男性，在 TET2 基因突变的情况下被诊断为慢性粒单核细胞白血病。

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Recurrent Aortic Thromboembolism Associated With TET2 Mutation in Chronic Myelomonocytic Leukemia.

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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来源期刊

Journal of investigative medicine high impact case reports MEDICINE, GENERAL & INTERNAL-

CiteScore

1.90

自引率

0.00%

发文量

165

审稿时长

12 weeks

期刊介绍： 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.