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Letters to the Editor

Looking for somatic mutations in UBA1 in patients with chronic myelomonocytic leukemia associated with systemic inflammation and autoimmune diseases

, , , , , , , , , , , , , & show all
Pages 250-252 | Received 05 Jul 2021, Accepted 17 Aug 2021, Published online: 03 Sep 2021

References

  • Ambinder A, Miller J, Dezem AE. Autoimmune disease in CMML-the chicken or the egg? Best Prac Res Clin Haematol. 2019;33(2):101136.
  • Malcovati L, Papaemmanuil E, Ambaglio I, et al. Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood. 2014;124(9):1513–1521.
  • Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628–2638.
  • Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–2405.
  • Mekinian A, Grignano E, Braun T, et al. Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a french multicentre retrospective study. Rheumatology. 2016;55(2):291–300.
  • Francès C, Rassi RE, Laporte J, et al. Dermatologic manifestations of relapsing polychondritis: a study of 200 cases at a single center. Medicine. 2001;80(3):173–179.
  • Grignano E, Mekinian A, Braun T, GFM, SNFMI and CRI, et al. Autoimmune and inflammatory diseases associated with chronic myelomonocytic leukemia: a series of 26 cases and literature review. Leuk Res. 2016;47:136–141.
  • Sakuma M, Tanimura A, Yasui S, et al. Case of polychondritis-onset refractory organising pneumonia with cytopaenia diagnosed as VEXAS syndrome: the disease course of seven years. Rheumatology. 2021;11.
  • Lee SJ, Park JK, Lee EY, et al. Certain autoimmune manifestations are associated with distinctive karyotypes and outcomes in patients with myelodysplastic syndrome: a retrospective cohort study. Medicine. 2016;95(13):e3091.
  • Oh Y-J, Shin D-Y, Hwang SM, et al. Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome. Korean J Intern Med. 2020;35(2):457–464.
  • Li S, Feng J, Wu F, et al. TET2 promotes anti-tumor immunity by governing G-MDSCs and CD8+ T-cell numbers. EMBO Rep. 2020;21(10):e49425.
  • Zhang Q, Zhao K, Shen Q, et al. Tet2 is required to resolve inflammation by recruiting Hdac2 to specifically repress IL-6. Nature. 2015;525(7569):389–393.
  • Wang Z, Li K, Chen W, et al. Modulation of SRSF2 expression reverses the exhaustion of TILs via the epigenetic regulation of immune checkpoint molecules. Cell Mol Life Sci. 2020;77(17):3441–3452.
  • Hu J, Xu J, Tian T, et al. TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes. Blood Cells Mol Dis. 2019;74:44–50.
  • Bellissimo DC, Chen C, Zhu Q, et al. Runx1 negatively regulates inflammatory cytokine production by neutrophils in response to toll-like receptor signaling. Blood Adv. 2020;4(6):1145–1158.
  • Watad A, Kacar M, Bragazzi NL, et al. Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS: an under-recognized but prognostically important complication. Front Immunol. 2021;12:610019.
  • Itzykson R, Duchmann M, Lucas N, et al. CMML: clinical and molecular aspects. Int J Hematol. 2017;105(6):711–719.
  • Zhao L-P, Boy M, Azoulay C, et al. Genomic landscape of MDS/CMML associated with systemic inflammatory and autoimmune disease. Leukemia. 2021;1–5.
  • Obiorah IE, Beck DB, Wang W, et al. Myelodysplasia and bone marrow manifestations of somatic UBA1 mutated autoinflammatory disease. Blood. 2020;136(Supplement 1):20–21.

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