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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Antineoplastic Agents / therapeutic use
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Renal Cell / drug therapy
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / secondary*
  • Everolimus / therapeutic use*
  • Humans
  • Kidney Neoplasms / drug therapy
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Liver Neoplasms / drug therapy
  • Liver Neoplasms / genetics
  • Liver Neoplasms / secondary
  • Lung Neoplasms / drug therapy
  • Lung Neoplasms / genetics
  • Lung Neoplasms / secondary
  • Male
  • Mutation*
  • Prognosis
  • Tuberous Sclerosis Complex 1 Protein / genetics*
  • Tuberous Sclerosis Complex 2 Protein / genetics*

Substances

  • Antineoplastic Agents
  • Biomarkers, Tumor
  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Everolimus