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Rheumatology (Oxford). 2021 Dec 01;60(12):5863-5867. doi: 10.1093/rheumatology/keab260.

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

Rheumatology (Oxford, England)

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,

Affiliations

  1. Department of Dermatology and Clinical Immunology, Guadeloupe University Hospital, Pointe-à-Pitre, Guadeloupe.
  2. Normandie University, UNIROUEN, IRIB, Inserm, U1234.
  3. Normandie University, UNIROUEN, IRIB, Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen.
  4. Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, Le Kremlin- Bicêtre.
  5. Department of Dermatology, Edouard Herriot Hospital.
  6. Department of Dermatology, Lyon sud Hospital, Hospices Civils de Lyon, Lyon.
  7. Department of Dermatology, APHP-Henri Mondor Hospital, Creteil University Hospital.
  8. Research Group Dynamic, EA7380, Faculté de Santé de Créteil, Ecole Nationale Vétérinaire d'Alfort, USC ANSES, Université Paris-Est Créteil, Créteil.
  9. National Centre for Rare Systemic Autoimmune Diseases, Department of Rheumatology, University Hospitals of Strasbourg, Strasbourg.
  10. Department of Dermatology, St Eloi Hospital, Montpellier University Hospital, Montpellier.
  11. Department of Dermatology, Rouen University Hospital, Rouen.
  12. Groupement Hospitalier Pitié-Salpêtrière, AP-HP, Department of Internal Medicine 2, E3M Institute, Paris.
  13. Department of Internal Medicine.
  14. Department of Pathology.
  15. Department of Immunology and biotherapies, Rouen University Hospital, Rouen.

PMID: 33764396 DOI: 10.1093/rheumatology/keab260

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.

© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: [email protected].

Keywords: Genetics; Muscle; Myositis and muscle disease; Neoplasia; Skin

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