ArticleThe Korean journal of internal medicine2020
Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome.
Article in The Korean journal of internal medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Observational and Genetic Association of Myelodysplastic Syndromes (MDS) and Autoimmune Diseases in Adults.Mediators of inflammation · 2026Article
- Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review.Cells · 2024Review
- Review
- Article
- Methylation ofDiagnostics (Basel, Switzerland) · 2022Article
- Concurrent ankylosing spondylitis and myelodysplastic syndrome: A case report.World journal of clinical cases · 2022Article
- Genomic landscape of MDS/CMML associated with systemic inflammatory and autoimmune disease.Leukemia · 2021Article
- TETology: Epigenetic Mastermind in Action.Applied biochemistry and biotechnology · 2021Review
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimsMyelodysplastic syndrome (MDS) is caused by genetic and epigenetic alteration of hematopoietic precursors and immune dysregulation. Approximately 20% of patients with MDS develop an autoimmune disease (AID). Here, we investigated whether particular genetic mutations are associated with AID in patients with MDS.
methodsEighty-eight genetic mutations associated with myeloid malignancy were sequenced in 73 MDS patients. The association between these mutations and AID was then analyzed.
resultsThe median age of the 73 MDS patients was 70 years (interquartile range, 56 to 75), and 49 (67.1%) were male. AID was observed in 16 of 73 patients (21.9%). Mutations were detected in 57 (78.1%) patients. The percentage (68.8% vs. 80.7%, p = 0.32) and the mean number of mutations (1.8 ± 1.6 vs. 2.2 ± 1.8, p = 0.34) in MDS patients with or without AID were similar. However, the ten-eleven translocation- 2 (TET2) mutation rate was significantly higher in patients with AID than in those without (31.3% vs. 5.3%, respectively; p = 0.001). All TET2 mutations were variants of strong clinical significance.
conclusionMutation of TET2 in patients with MDS may be associated with increased risk of developing AID.
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