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与Xp11.2易位/TFE3基因融合相关的肾细胞癌:对雷帕霉素哺乳动物靶点(mTOR)抑制剂的长期反应。

Renal Cell Carcinoma Associated With Xp11.2 Translocation/TFE3 Gene-fusion: A Long Response to mammalian target of rapamycin (mTOR) Inhibitors.

作者信息

Rua Fernández Oliver R, Escala Cornejo Roberto, Navarro Martín Miguel, García Muñoz María, Antunez Plaza Patricia, García Dominguez Aracely Rocío, Cruz Hernández Juan J

机构信息

Department of Medical Oncology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.

Department of Medical Oncology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.

出版信息

Urology. 2018 Jul;117:41-43. doi: 10.1016/j.urology.2018.03.032. Epub 2018 Apr 24.

DOI:10.1016/j.urology.2018.03.032
PMID:29702156
Abstract

OBJECTIVE

To demonstrate that patients with Xp11.2/TFE3 gene-fusion translocation renal cell carcinoma (RCC), despite having an aggressive course in young adults, could have valid treatment options such as mammalian target of rapamycin (mTOR) inhibitors with good outcomes. Furthermore, to explain possible mechanisms of action of mTOR inhibitors in this type of RCC.

MATERIALS AND METHODS

We report a case of a 44-year-old man who has been treated with everolimus for a Xp11.2 translocation/TFE3 gene-fusion RCC after 2 previous failed treatments with tyrosine kinase inhibitor. During the follow-up, we evaluated type and duration of response with everolimus.

RESULTS

The patient obtained a long-lasting response of disease of 25 months with everolimus without any symptom.

CONCLUSION

We believe that mTOR inhibitors could be a good line option treatment to consider for this type of patients.

摘要

目的

证明Xp11.2/TFE3基因融合易位性肾细胞癌(RCC)患者,尽管在年轻成年人中病程进展迅速,但仍可采用有效的治疗方案,如使用雷帕霉素靶蛋白(mTOR)抑制剂并取得良好疗效。此外,解释mTOR抑制剂在这类肾细胞癌中的可能作用机制。

材料与方法

我们报告了一例44岁男性患者,其在先前两次酪氨酸激酶抑制剂治疗失败后,接受依维莫司治疗Xp11.2易位/TFE3基因融合肾细胞癌。在随访期间,我们评估了依维莫司的反应类型和持续时间。

结果

该患者使用依维莫司后获得了长达25个月的疾病持久缓解,且无任何症状。

结论

我们认为mTOR抑制剂可能是这类患者值得考虑的一线治疗选择。

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