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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)457-464
Number of pages8
JournalKorean Journal of Internal Medicine
Volume35
Issue number2
DOIs
StatePublished - 1 Mar 2020

Keywords

  • Autoimmune diseases
  • Mutation
  • Myelodysplastic syndromes

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