下一代测序鉴定出抗 TIF1γ 阳性癌症相关皮肌炎患者肿瘤中的 TRIM33 基因体细胞突变。
TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.
机构信息
Department of Dermatology and Clinical Immunology, Guadeloupe University Hospital, Pointe-à-Pitre, Guadeloupe.
Normandie University, UNIROUEN, IRIB, Inserm, U1234.
出版信息
Rheumatology (Oxford). 2021 Dec 1;60(12):5863-5867. doi: 10.1093/rheumatology/keab260.
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.
目的
对癌症相关抗 TIF1γ 自身抗体阳性皮肌炎（DM）患者肿瘤中的 TRIM33 基因进行深度测序，因为肿瘤中的 TRIM33 体细胞突变可能引发这种自身免疫性疾病。
方法
对癌症相关抗 TIF1γ 自身抗体阳性 DM 患者的肿瘤 DNA 样本进行下一代测序。对 13 名抗 TIF1γ 自身抗体阳性 DM 个体的 14 个肿瘤以及 2 名非 DM 个体的对照肿瘤进行了测序。
结果
在 TRIM33 基因中发现了 4 个肿瘤的 14 个可能的体细胞变异。
结论
这些结果与 Pinal-Fernandez 等人的先前报告一致，支持 TRIM33 基因突变在抗 TIF1γ 自身抗体阳性 DM 病理生理学中的作用假说。
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