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Rheumatology (Oxford) ; 60(12): 5863-5867, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-33764396

RESUMO

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
DNA/genética , Dermatomiosite/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Mutação , Neoplasias/complicações , Fatores de Transcrição/genética , Idoso , Análise Mutacional de DNA , Dermatomiosite/etiologia , Dermatomiosite/metabolismo , Feminino , Humanos , Masculino , Fatores de Transcrição/metabolismo , Dedos de Zinco
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