Frequent genetic alterations in myositis autoantigen genes in cancer-associated dermatomyositis
Authors' conclusion
We detected highly frequent genetic alterations in autoantibody-related genes, supporting their role in the CAD pathogenic mechanisms.
Study context
- Population
- Patients with cancer-associated DM (cancer-associated dermatomyositis (CAD)); leukocyte (germline), muscle, skin and tumour samples
- Participants
- 15 patients
- Outcome
- Prevalence of genetic alterations in autoantibody-related genes
Methodological detailsgenomic and transcriptomic analyses, T-cell receptor (TCR) repertoire profiling, multiplex immunophenotyping
- Genomic and transcriptomic analyses
- TCR repertoire profiling
- Multiplex immunophenotyping
Main finding
As reported in the abstract
Tumours from patients with CAD with somatic mutations/loss of heterozygosity (LOH) in autoantibody-related genes
75%
Original publication
Frequent genetic alterations in myositis autoantigen genes in cancer-associated dermatomyositis. Ann Rheum Dis. Published 25 November 2025. doi:10.
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