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Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome
The Korean Journal of Internal Medicine ; : 457-464, 2020.
Article | WPRIM | ID: wpr-831828
ABSTRACT
Background/Aims@#Myelodysplastic 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. @*Methods@#Eighty-eight genetic mutations associated with myeloid malignancy were sequenced in 73 MDS patients. The association between these mutations and AID was then analyzed. @*Results@#The 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. @*Conclusions@#Mutation of TET2 in patients with MDS may be associated with increased risk of developing AID.
Full text: Available Index: WPRIM (Western Pacific) Type of study: Etiology study Journal: The Korean Journal of Internal Medicine Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Etiology study Journal: The Korean Journal of Internal Medicine Year: 2020 Type: Article