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Mutations in renal cell carcinoma.

Authors
  • D'Avella, Christopher1
  • Abbosh, Phillip2
  • Pal, Sumanta K3
  • Geynisman, Daniel M4
  • 1 Department of Hematology/Oncology, Fox Chase Cancer Center, Philadelphia, PA.
  • 2 Molecular Therapeutics, Fox Chase Cancer Center, Temple Health, Philadelphia, PA; Department of Urology, Einstein Medical Center, Philadelphia, PA.
  • 3 Department of Medical Oncology & Experimental Therapeutics, City of Hope Comprehensive Cancer Center, Duarte, CA.
  • 4 Department of Hematology/Oncology, Fox Chase Cancer Center, Philadelphia, PA. Electronic address: [email protected]
Type
Published Article
Journal
Urologic oncology
Publication Date
Oct 01, 2020
Volume
38
Issue
10
Pages
763–773
Identifiers
DOI: 10.1016/j.urolonc.2018.10.027
PMID: 30478013
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Renal cell carcinoma (RCC) is a commonly diagnosed and histologically diverse urologic malignancy. Clear cell RCC (ccRCC) is by far the most common, followed by the papillary and chromophobe subtypes. Sarcomatoid differentiation is a morphologic change that can be seen in all subtypes that typically portends a poor prognosis. In the past, treatment options for RCC were limited to cytokine-based therapy with a high-toxicity profile and low response rate. An increased understanding of the molecular basis of RCC has led to substantial improvement in treatment options in the form of targeted therapy and immunotherapy. A significant early discovery in RCC was frequent inactivation of the Von Hippel Lindau gene in ccRCC, which ultimately led to the development of vascular endothelial growth factor and mammalian target of rapamycin inhibitors. Further genomic sequencing of ccRCC tumors has identified other common mutations including BAP-1, PBRM1, SETD2, and PIK3CA. Many recent studies have explored how these mutations can affect prognosis and response to treatment. Likewise, papillary RCC has also been studied at the molecular level, which has shown a high level of mutations in the MET gene; early clinical data suggest the utility of MET targeted therapy. Finally, regarding the rarer sarcomatoid tumors, mutations in TP53 and NF2 may be important to their development. As we continue to learn more about what drives RCC at the molecular level, treatment options for RCC patients are diversifying. Copyright © 2018 Elsevier Ltd. All rights reserved.

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