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Título: | Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome |
Autor: | Oh, Y. J.; Shin, D. Y.; Hwang, S. M.; Kim, S. M.; Im, K.; Park, H. S.; Kim, J. A.; Song, Y. W.; Márquez, Ana; Martín, J.; Lee, D. S.; Park, J. K. | Palabras clave: | Autoimmune diseases Mutation Myelodysplastic syndromes |
Fecha de publicación: | 2020 | Editor: | Korean Association of Internal Medicine | Citación: | Korean Journal of Internal Medicine 35: 457- 464 (2020) | Resumen: | 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. | Versión del editor: | http://dx.doi.org/10.3904/kjim.2018.247 | URI: | http://hdl.handle.net/10261/216579 | DOI: | 10.3904/kjim.2018.247 | Identificadores: | doi: 10.3904/kjim.2018.247 issn: 2005-6648 url: http://www.kjim.org/journal/view.php?number=170249 |
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