Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome
- Author:
Yoon-Jeong OH
1
;
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
Author Information
- Publication Type:2
- From:The Korean Journal of Internal Medicine 2020;35(2):457-464
- CountryRepublic of Korea
-
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.
