Your browser doesn't support javascript.
loading
TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.
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.
Afiliação
  • Cordel N; Department of Dermatology and Clinical Immunology, Guadeloupe University Hospital, Pointe-à-Pitre, Guadeloupe.
  • Derambure C; Normandie University, UNIROUEN, IRIB, Inserm, U1234.
  • Coutant S; Normandie University, UNIROUEN, IRIB, Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen.
  • Mariette X; Normandie University, UNIROUEN, IRIB, Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen.
  • Jullien D; Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, Le Kremlin- Bicêtre.
  • Debarbieux S; Department of Dermatology, Edouard Herriot Hospital.
  • Chosidow O; Department of Dermatology, Lyon sud Hospital, Hospices Civils de Lyon, Lyon.
  • Meyer A; Department of Dermatology, APHP-Henri Mondor Hospital, Creteil University Hospital.
  • Bessis D; Research Group Dynamic, EA7380, Faculté de Santé de Créteil, Ecole Nationale Vétérinaire d'Alfort, USC ANSES, Université Paris-Est Créteil, Créteil.
  • Joly P; National Centre for Rare Systemic Autoimmune Diseases, Department of Rheumatology, University Hospitals of Strasbourg, Strasbourg.
  • Mathian A; Department of Dermatology, St Eloi Hospital, Montpellier University Hospital, Montpellier.
  • Levesque H; Normandie University, UNIROUEN, IRIB, Inserm, U1234.
  • Sabourin JC; Department of Dermatology, Rouen University Hospital, Rouen.
  • Tournier I; Groupement Hospitalier Pitié-Salpêtrière, AP-HP, Department of Internal Medicine 2, E3M Institute, Paris.
  • Boyer O; Department of Internal Medicine.
Rheumatology (Oxford) ; 60(12): 5863-5867, 2021 12 01.
Article em En | MEDLINE | ID: mdl-33764396
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.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / DNA / Dermatomiosite / Sequenciamento de Nucleotídeos em Larga Escala / Mutação / Neoplasias Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Female / Humans / Male Idioma: En Revista: Rheumatology (Oxford) Assunto da revista: REUMATOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Guadalupe

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / DNA / Dermatomiosite / Sequenciamento de Nucleotídeos em Larga Escala / Mutação / Neoplasias Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Female / Humans / Male Idioma: En Revista: Rheumatology (Oxford) Assunto da revista: REUMATOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Guadalupe