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KMID : 0338420200350020457
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Korean Journal of Internal Medicine
2020 Volume.35 No. 2 p.457 ~ p.464
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Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome
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Oh Yoon-Jeong
Shin Dong-Yeop
Hwang Sang-Mee
Kim Sung-Min
Im Kyong-Ok
Park Hee-Sue
Kim Jung-Ah
Song Yeong-Wook
Marquez Ana
Martin Javier
Lee Dong-Soon
Park Jin-Kyun
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Abstract
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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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KEYWORD
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Myelodysplastic syndromes, Autoimmune diseases, Mutation
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