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

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 patient...

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Veröffentlicht in:Rheumatology 2021-12, Vol.60 (12), p.5863-5867
Hauptverfasser: 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
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Sprache:eng
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Zusammenfassung: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.
ISSN:1462-0324
1462-0332
1460-2172
DOI:10.1093/rheumatology/keab260