TSC1/2突变作为转移性肾细胞癌中依维莫司反应的标志物：一项病例研究。
TSC1/2 mutations as markers of response to everolimus in metastatic renal cell carcinoma: A case study.
作者信息
Jacob Linu A, Shafi Gowhar
机构信息
Department of Medical Oncology, Fortis Hospital, Bengaluru, Karnataka, India.
Department of Clinical Genomics and Bioinformatics, Positive Bioscience, Mumbai, Maharashtra, India.
出版信息
Indian J Cancer. 2019 Jul-Sep;56(3):274-275. doi: 10.4103/ijc.IJC_732_18.
We report a case of a 67-year-old man with pazopanib-resistant metastatic renal cell carcinoma (mRCC) who showed an exceptional response to everolimus. Furthermore, this patient had TSC1 and TSC2 mutations. Only a subset of patients with mRCC respond to mTOR inhibitors and emerging evidences indicate that TSC1 and TSC2 mutations could be markers of response to mTOR inhibition. The current case study supports these accruing evidences.
我们报告了一例67岁对帕唑帕尼耐药的转移性肾细胞癌（mRCC）男性患者，该患者对依维莫司表现出显著反应。此外，该患者存在TSC1和TSC2突变。只有一部分mRCC患者对mTOR抑制剂有反应，新出现的证据表明TSC1和TSC2突变可能是对mTOR抑制反应的标志物。当前的病例研究支持了这些不断积累的证据。
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