TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis

Rheumatology (Oxford). 2021 Dec 1;60(12):5863-5867. doi: 10.1093/rheumatology/keab260.

Abstract

Objective: To deep sequence the TRIM33 gene in tumours from patients with cancer-associated anti-TIF1γ autoantibody-positive dermatomyositis (DM) as TRIM33 somatic mutations in tumours may trigger this auto-immune disease.

Methods: Next generation sequencing of tumour DNA samples from patients with cancer-associated anti-TIF1γ autoantibody-positive DM. Fourteen tumours from 13 anti-TIF1γ autoantibody-positive DM individuals were sequenced along with two control tumours from non-DM individuals.

Results: Fourteen probable somatic variants from four tumours were identified in the TRIM33 gene.

Conclusion: These results are in accordance with the previous report of Pinal-Fernandez et al. and support the hypothesis of a role of TRIM33 gene mutations in the pathophysiology of anti-TIF1γ autoantibody-positive DM.

Keywords: Genetics; Muscle; Myositis and muscle disease; Neoplasia; Skin.

MeSH terms

  • Aged
  • DNA / genetics*
  • DNA Mutational Analysis
  • Dermatomyositis / etiology
  • Dermatomyositis / genetics*
  • Dermatomyositis / metabolism
  • Female
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Male
  • Mutation*
  • Neoplasms / complications*
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Zinc Fingers

Substances

  • TRIM33 protein, human
  • Transcription Factors
  • DNA