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

Aged DNA / genetics DNA Mutational Analysis Dermatomyositis / etiology Female High-Throughput Nucleotide Sequencing / methods Humans Male Mutation Neoplasms / complications Transcription Factors / genetics Zinc Fingers
Genetics Muscle Myositis and muscle disease Neoplasia Skin

Journal

Rheumatology (Oxford, England)
ISSN: 1462-0332
Titre abrégé: Rheumatology (Oxford)
Pays: England
ID NLM: 100883501

Informations de publication

Date de publication:
01 12 2021
Historique:
received: 17 01 2021
accepted: 28 02 2021
pubmed: 26 3 2021
medline: 30 12 2021
entrez: 25 3 2021
Statut: ppublish

Résumé

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. 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. Fourteen probable somatic variants from four tumours were identified in the TRIM33 gene. 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.

Identifiants

DOI: 10.1093/rheumatology/keab260 PMID: 33764396
pubmed: 33764396
pii: 6187966
doi: 10.1093/rheumatology/keab260
doi:

Substances chimiques

TRIM33 protein, human 0
Transcription Factors 0
DNA 9007-49-2

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

5863-5867

Investigateurs

Zahir Amoura (Z)
Jessie Aouizerate (J)
Olivier Benveniste (O)
Isabelle Brocheriou (I)
Benoit Dechelotte (B)
Julie Graveleau (J)
Pascale Guerzider (P)
Sylvie Isaac (S)
Jean Kanitakis (J)
Béatrice Lannes (B)
Thierry Lazure (T)
Valérie Rigau (V)
Jean Sibilia (J)

Informations de copyright

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

Auteurs

Nadège Cordel (N)

Department of Dermatology and Clinical Immunology, Guadeloupe University Hospital, Pointe-à-Pitre, Guadeloupe.
Normandie University, UNIROUEN, IRIB, Inserm, U1234.

Céline Derambure (C)

Normandie University, UNIROUEN, IRIB, Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen.

Sophie Coutant (S)

Normandie University, UNIROUEN, IRIB, Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen.

Xavier Mariette (X)

Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, Le Kremlin- Bicêtre.

Denis Jullien (D)

Department of Dermatology, Edouard Herriot Hospital.

Sébastien Debarbieux (S)

Department of Dermatology, Lyon sud Hospital, Hospices Civils de Lyon, Lyon.

Olivier Chosidow (O)

Department of Dermatology, APHP-Henri Mondor Hospital, Creteil University Hospital.
Research Group Dynamic, EA7380, Faculté de Santé de Créteil, Ecole Nationale Vétérinaire d'Alfort, USC ANSES, Université Paris-Est Créteil, Créteil.

Alain Meyer (A)

National Centre for Rare Systemic Autoimmune Diseases, Department of Rheumatology, University Hospitals of Strasbourg, Strasbourg.

Didier Bessis (D)

Department of Dermatology, St Eloi Hospital, Montpellier University Hospital, Montpellier.

Pascal Joly (P)

Normandie University, UNIROUEN, IRIB, Inserm, U1234.
Department of Dermatology, Rouen University Hospital, Rouen.

Alexis Mathian (A)

Groupement Hospitalier Pitié-Salpêtrière, AP-HP, Department of Internal Medicine 2, E3M Institute, Paris.

Hervé Levesque (H)

Department of Internal Medicine.

Jean-Christophe Sabourin (JC)

Normandie University, UNIROUEN, IRIB, Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen.
Department of Pathology.

Isabelle Tournier (I)

Normandie University, UNIROUEN, IRIB, Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen.

Olivier Boyer (O)

Normandie University, UNIROUEN, IRIB, Inserm, U1234.
Department of Immunology and biotherapies, Rouen University Hospital, Rouen.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Dermatomyosite › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Tumeurs › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › TRIM33 gene somatic mutations identified by...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Conformation moléculaire › Conformation des protéines › Éléments structuraux des protéines › Doigts de zinc › TRIM33 gene somatic mutations identified by...