1.Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome
Yoon-Jeong OH ; Dong-Yeop SHIN ; Sang Mee HWANG ; Sung-Min KIM ; Kyongok IM ; Hee Sue PARK ; Jung-Ah KIM ; Yeong Wook SONG ; Ana MÁRQUEZ ; Javier MARTÍN ; Dong-Soon LEE ; Jin Kyun PARK
The Korean Journal of Internal Medicine 2020;35(2):457-464
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.
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