TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis. (25th March 2021)

• Record Type: Journal Article
• Authors: Cordel, Nadège; Derambure, Céline; Coutant, Sophie; Mariette, Xavier; Jullien, Denis; Debarbieux, Sébastien; Chosidow, Olivier; Meyer, Alain; Bessis, Didier; Joly, Pascal; Mathian, Alexis; Levesque, Hervé; Sabourin, Jean-Christophe; Tournier, Isabelle; Boyer, Olivier
• Is Part Of: Rheumatology. Volume 60:Number 12(2021)
• Page Start: 5863
• Page End: 5867
• Publication Date: 2021-03-25
• Subjects: Myositis and muscle disease -- Neoplasia -- Genetics -- Skin -- Muscle; Rheumatism -- Periodicals; Rheumatology -- Periodicals; 616.723005
• DOI: 10.1093/rheumatology/keab260
• Languages: English
• ISSNs: 1462-0324

Abstract

Abstract: Objective: To deep sequence the TRIM 33 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.