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

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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 | Amoura, Zahir | Aouizerate, Jessie | Benveniste, Olivier | Brocheriou, Isabelle | Dechelotte, Benoît | Graveleau, Julie | Guerzider, Pascale | Isaac, Sylvie | Kanitakis, Jean | Lannes, Béatrice | Lazure, Thierry | Rigau, Valérie | Sibilia, Jean

Edité par CCSD ; Oxford University Press (OUP) -

International audience. 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.

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