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Systemic sclerosis

Genome-wide mutagenesis reported in systemic sclerosis

Nature Reviews Rheumatology volume 21, pages 135–136 (2025)Cite this article

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The mechanisms that drive the diverse disease manifestations and increased cancer risk associated with systemic sclerosis are unclear. Investigating the genomic alterations observed in patients with systemic sclerosis could contribute towards untangling this complex disease.

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Fig. 1: Genomic mutations in SSc fibroblasts could expose patients to an increased risk of cancer.

References

  1. Mecoli, C. A., Rosen, A., Casciola-Rosen, L. & Shah, A. A. Advances at the interface of cancer and systemic sclerosis. J. Scleroderma Relat. Disord. 6, 50–57 (2021).

    Article  PubMed  Google Scholar 

  2. Artlett, C. M., Black, C. M., Briggs, D. C., Stephens, C. & Welsh, K. I. DNA allelic alterations within VNTR loci of scleroderma families. Br. J. Rheumatol. 35, 1216–1222 (1996).

    Article  CAS  PubMed  Google Scholar 

  3. Artlett, C. M., Black, C. M., Briggs, D. C., Stevens, C. O. & Welsh, K. I. Telomere reduction in scleroderma patients: a possible cause for chromosomal instability. Br. J. Rheumatol. 35, 732–737 (1996).

    Article  CAS  PubMed  Google Scholar 

  4. Vijayraghavan, S. et al. Widespread mutagenesis and chromosomal instability shape somatic genomes in systemic sclerosis. Nat. Commun. 15, 8889 (2024).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Torreggiani, S., Castellan, F. S., Aksentijevich, I. & Beck, D. B. Somatic mutations in autoinflammatory and autoimmune disease. Nat. Rev. Rheumatol. 20, 683–698 (2024).

    Article  PubMed  Google Scholar 

  6. Nonaka, T. et al. Involvement of activation-induced cytidine deaminase in skin cancer development. J. Clin. Invest. 126, 1367–1382 (2016).

    Article  PubMed  PubMed Central  Google Scholar 

  7. Paul, S. et al. Centromere defects, chromosome instability, and cGAS-STING activation in systemic sclerosis. Nat. Commun. 13, 7074 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Artlett, C. M. et al. The inflammasome activating caspase-1 mediates fibrosis and myofibroblast differentiation in systemic sclerosis. Arthritis Rheum. 63, 3563–3574 (2011).

    Article  CAS  PubMed  Google Scholar 

  9. Wyman, A. E. & Atamas, S. P. Sirtuins and accelerated aging in scleroderma. Curr. Rheumatol. Rep. 20, 16 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  10. Yun, J. H. et al. Clonal somatic mutations in chronic lung diseases are associated with reduced lung function. Am. J. Respir. Crit. Care Med. 208, 1196–1205 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Microbiology and Immunology, Drexel University College of Medicine, Drexel University, Philadelphia, PA, USA

    Carol M. Artlett

  2. Department of Internal Medicine, Division of Rheumatology, The University of Michigan, Ann Arbor, MI, USA

    John Varga

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  1. Carol M. Artlett
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  2. John Varga
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Correspondence to John Varga.

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The authors declare no competing interests.

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Artlett, C.M., Varga, J. Genome-wide mutagenesis reported in systemic sclerosis. Nat Rev Rheumatol 21, 135–136 (2025). https://doi.org/10.1038/s41584-025-01219-8

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