<i>TRIM33</i> gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis
N. Cordel, Céline Derambure, Sophie Coutant, Xavier Mariette, D. Jullien, S. Debarbieux, O. Chosidow, Alain Meyer, D. Bessis, P. Joly, Alexis Mathian, H. Lévesque, Jean‐Christophe Sabourin, Isabelle Tournier, Olivier Boyer, the OncoMyositis Study group, Zahir Amoura, Jessie Aouizerate, Olivier Benvéniste, Isabelle Brochériou, Benoît Déchelotte, J. Graveleau, P. Guerzider, Sylvie Isaac, Jean Kanitakis, Béatrice Lannes, Thierry Lazure, Valérie Rigau, Jean Sibilia
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.