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

To deep sequence the TRIM33 gene in tumours from patients with cancer-associated anti-TIF1γ autoantibody-positive dermatomyositis (DM) since 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 2 control tumours from non-DM individuals.Fourteen probable somatic variants from 4 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.


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Authors: Nadège Cordel, Céline Derambure, Sophie Coutant, Xavier Mariette, Denis Jullien, Sébastien Debarbieux, Olivier Chosidow, Alain Meyer, Didier Bessis, Pascal Joly, Alexis Mathian, Hervé Levesque, Jean-Christophe Sabourin, Isabelle Tournier, Olivier Boyer, OncoMyositis Study group