The use of everolimus to target carcinogenic pathways in a patient with renal cell carcinoma and tuberous sclerosis complex: A case report

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Abstract

Introduction. An increased understanding of the genetic pathways involved in renal cell carcinoma has resulted in the development of various drugs that target relevant signaling cascades for the specific treatment of this disease. However, no validated predictive markers have been identified to guide the decision whether patients should receive vascular endothelial growth factor-targeted therapy or mammalian target of rapamycin-targeted therapy. We present what is, to the best of our knowledge, the first case of renal cell carcinoma in a patient with tuberous sclerosis complex who was successfully treated with everolimus. Case presentation. The patient was a 49-year-old Korean woman with tuberous sclerosis complex and recurrent renal cell carcinoma. The patient was treated with the tyrosine kinase inhibitor sunitinib followed by the mammalian target of rapamycin inhibitor everolimus. This treatment resulted in a prolonged response and significant clinical benefit. Notably, everolimus ameliorated the symptoms related not only to renal cell carcinoma but also to tuberous sclerosis complex. Conclusion: This case provides a rationale for the use of everolimus as first-line treatment for this specific patient population in order to target the correct pathway involved in carcinogenesis.

Original languageEnglish
Article number95
JournalJournal of Medical Case Reports
Volume8
Issue number1
DOIs
Publication statusPublished - 2014 Mar 10

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Tuberous Sclerosis
Renal Cell Carcinoma
Sirolimus
Therapeutics
Protein-Tyrosine Kinases
Vascular Endothelial Growth Factor A
Carcinogenesis
Everolimus
Pharmaceutical Preparations
Population

Keywords

  • Everolimus
  • Mammalian target of rapamycin inhibitor
  • Renal cell carcinoma
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "The use of everolimus to target carcinogenic pathways in a patient with renal cell carcinoma and tuberous sclerosis complex: A case report",
abstract = "Introduction. An increased understanding of the genetic pathways involved in renal cell carcinoma has resulted in the development of various drugs that target relevant signaling cascades for the specific treatment of this disease. However, no validated predictive markers have been identified to guide the decision whether patients should receive vascular endothelial growth factor-targeted therapy or mammalian target of rapamycin-targeted therapy. We present what is, to the best of our knowledge, the first case of renal cell carcinoma in a patient with tuberous sclerosis complex who was successfully treated with everolimus. Case presentation. The patient was a 49-year-old Korean woman with tuberous sclerosis complex and recurrent renal cell carcinoma. The patient was treated with the tyrosine kinase inhibitor sunitinib followed by the mammalian target of rapamycin inhibitor everolimus. This treatment resulted in a prolonged response and significant clinical benefit. Notably, everolimus ameliorated the symptoms related not only to renal cell carcinoma but also to tuberous sclerosis complex. Conclusion: This case provides a rationale for the use of everolimus as first-line treatment for this specific patient population in order to target the correct pathway involved in carcinogenesis.",
keywords = "Everolimus, Mammalian target of rapamycin inhibitor, Renal cell carcinoma, Tuberous sclerosis complex",
author = "Kim, {Hye Sook} and Kim, {Seung Tae} and Kang, {Seok Ho} and Sung, {Deuk Jae} and Kim, {Chul Hwan} and Shin, {Sang Won} and Kim, {Yeul Hong} and Cho, {Won Yong} and Park, {Kyong Hwa}",
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AU - Kim, Hye Sook

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AU - Sung, Deuk Jae

AU - Kim, Chul Hwan

AU - Shin, Sang Won

AU - Kim, Yeul Hong

AU - Cho, Won Yong

AU - Park, Kyong Hwa

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N2 - Introduction. An increased understanding of the genetic pathways involved in renal cell carcinoma has resulted in the development of various drugs that target relevant signaling cascades for the specific treatment of this disease. However, no validated predictive markers have been identified to guide the decision whether patients should receive vascular endothelial growth factor-targeted therapy or mammalian target of rapamycin-targeted therapy. We present what is, to the best of our knowledge, the first case of renal cell carcinoma in a patient with tuberous sclerosis complex who was successfully treated with everolimus. Case presentation. The patient was a 49-year-old Korean woman with tuberous sclerosis complex and recurrent renal cell carcinoma. The patient was treated with the tyrosine kinase inhibitor sunitinib followed by the mammalian target of rapamycin inhibitor everolimus. This treatment resulted in a prolonged response and significant clinical benefit. Notably, everolimus ameliorated the symptoms related not only to renal cell carcinoma but also to tuberous sclerosis complex. Conclusion: This case provides a rationale for the use of everolimus as first-line treatment for this specific patient population in order to target the correct pathway involved in carcinogenesis.

AB - Introduction. An increased understanding of the genetic pathways involved in renal cell carcinoma has resulted in the development of various drugs that target relevant signaling cascades for the specific treatment of this disease. However, no validated predictive markers have been identified to guide the decision whether patients should receive vascular endothelial growth factor-targeted therapy or mammalian target of rapamycin-targeted therapy. We present what is, to the best of our knowledge, the first case of renal cell carcinoma in a patient with tuberous sclerosis complex who was successfully treated with everolimus. Case presentation. The patient was a 49-year-old Korean woman with tuberous sclerosis complex and recurrent renal cell carcinoma. The patient was treated with the tyrosine kinase inhibitor sunitinib followed by the mammalian target of rapamycin inhibitor everolimus. This treatment resulted in a prolonged response and significant clinical benefit. Notably, everolimus ameliorated the symptoms related not only to renal cell carcinoma but also to tuberous sclerosis complex. Conclusion: This case provides a rationale for the use of everolimus as first-line treatment for this specific patient population in order to target the correct pathway involved in carcinogenesis.

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