Pathogenic TET2 Variants and Autoinflammatory Manifestations in Myeloid Hematologic Malignancies: Case Report and Literature Review

Emerging evidence suggests that somatic mutations in genes associated with innate immunity can trigger adult-onset autoinflammatory diseases. Notably, loss-of-function variants in the TET2 gene have been linked to both hematological malignancies and immune-mediated disorders. A case is presented of a 73-year-old woman with chronic myelomonocytic leukemia who developed severe pericardial effusion secondary to inflammatory serositis, associated with a pathogenic TET2 variant. Despite initial treatment with corticosteroids and diuretics, her condition worsened, which led to the need to implement treatment with colchicine and anakinra. This regimen led to significant clinical improvement and resolution of the effusion. This case reflects the importance of searching for pathogenic variants in TET2 in patients with hematological disorders, with the aim of early recognition of inflammatory manifestations associated with this genetic alteration. Treatment with colchicine and anti-interleukin-1 should be considered in these cases, as they are effective and avoid the unnecessary use of other immunosuppressants. Cite this article as: Porto Fuentes Ó, de Paz Arias R, Álvarez Troncoso J. Pathogenic TET2 variants and autoinflammatory manifestations in myeloid hematologic malignancies: case report and literature review. Eur J Rheumatol. 2026, 13(1), 0119, doi:10.5152/eurjrheum.2026.24119.