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Indian J Cancer. 2019 Jul-Sep;56(3):274-275. doi: 10.4103/ijc.IJC_732_18.

TSC1/2 mutations as markers of response to everolimus in metastatic renal cell carcinoma: A case study.

Author information

1
Department of Medical Oncology, Fortis Hospital, Bengaluru, Karnataka, India.
2
Department of Clinical Genomics and Bioinformatics, Positive Bioscience, Mumbai, Maharashtra, India.

Abstract

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.

KEYWORDS:

Everolimus; TSC1/2 mutations; mTOR inhibitors; metastatic renal cell carcinoma

PMID:
31389395
DOI:
10.4103/ijc.IJC_732_18
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