Korean J Intern Med.  2020 Mar;35(2):457-464. 10.3904/kjim.2018.247.

Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome

Affiliations
  • 1Division of Rheumatology, Department of Internal Medicine, Kangwon National University School of Medicine, Chuncheon, Korea
  • 2Division of Hematology and Medical Oncology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
  • 3Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea
  • 4Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea
  • 5Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea
  • 6Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea
  • 7Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
  • 8Instituto de Parasitología y Biomedicina “López-Neyra”, CSIC, Granada, Spain

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.

Keyword

Myelodysplastic syndromes; Autoimmune diseases; Mutation
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