TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.
other · Level V
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- Record sourced from PubMed, PMID 33764396.
- Also identified by DOI 10.1093/rheumatology/keab260.
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Abstract
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. 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. Fourteen probable somatic variants from four tumours were identified in the TRIM33 gene. 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.
Medical subject headings
- DNA
- Dermatomyositis
- High-Throughput Nucleotide Sequencing
- Mutation
- Neoplasms
- Transcription Factors