Recurrent Aortic Thromboembolism Associated With TET2 Mutation in Chronic Myelomonocytic Leukemia

• Published in: JIM - high impact case reports Vol. 12; p. 23247096231224366
• Main Authors: Bukhari, Syed, Saati, Ammar, Abuhalimeh, Batool, Ouma, Geoffrey
• Format: Journal Article
• Language: English
• Published: United States 01-01-2024
• Subjects: Aged; Cytokines - genetics; Dioxygenases - genetics; DNA-Binding Proteins - genetics; Embolism; Epigenesis, Genetic; Humans; Leukemia, Myelomonocytic, Chronic - complications; Leukemia, Myelomonocytic, Chronic - genetics; Leukemia, Myelomonocytic, Chronic - pathology; Male; Mutation; Thromboembolism; Thrombosis; recurrent atheroembolism; TET2 mutation; radiology/imaging; hematology oncology
• ISSN: 2324-7096; 2324-7096
• DOI: 10.1177/23247096231224366

Ten-eleven translocation 2 (
) 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
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
mutation.