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

Nadège Cordel (1, 2) , Céline Derambure (3) , Sophie Coutant (3) , Xavier Mariette (4) , Denis Jullien (5) , Sébastien Debarbieux (6) , Olivier Chosidow (7, 8) , Alain Meyer (9) , Didier Bessis (10, 11) , Pascal Joly (2, 12) , Alexis Mathian (13) , Hervé Levesque (14) , Jean-Christophe Sabourin (3, 12) , Isabelle Tournier (3) , Olivier Boyer (2, 12) , Zahir Amoura , Jessie Aouizerate , Olivier Benveniste , Isabelle Brocheriou , Benoît Dechelotte , Julie Graveleau , Pascale Guerzider , Sylvie Isaac , Jean Kanitakis , Béatrice Lannes , Thierry Lazure , Valérie Rigau (10, 15) , Jean Sibilia

1 CHU Pointe-à-Pitre/Abymes [Guadeloupe]
2 PANTHER - Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices
3 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
4 Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
5 Hôpital Edouard Herriot [CHU - HCL]
6 HCL - Hospices Civils de Lyon
7 Hôpital Henri Mondor
8 DYNAMIC - Dynamic Microbiology - EA 7380
9 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
10 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
11 PCCEI - Pathogenesis and Control of Chronic and Emerging Infections
12 CHU Rouen
13 CHU Pitié-Salpêtrière [AP-HP]
14 Service de Médecine Interne [CHU Rouen]
15 INM - Institut des Neurosciences de Montpellier

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.

Mots clés: Genetics; Muscle; Myositis and muscle disease; Neoplasia; Skin

Domaines: Rhumatologie et système ostéo-articulaire

Nadège Cordel, Céline Derambure, Sophie Coutant, Xavier Mariette, Denis Jullien, et al.. TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis. Rheumatology, 2021, 60 (12), pp.5863-5867. ⟨10.1093/rheumatology/keab260⟩. ⟨hal-03667247⟩