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Genomic profiling in renal cell carcinoma.

Nazli Dizman1, Errol J Philip2, Sumanta K Pal3

  • 1Department of Medical Oncology & Experimental Therapeutics, City of Hope Comprehensive Cancer Center, Duarte, CA, USA.

Nature Reviews. Nephrology
|June 21, 2020
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Summary

Genomic markers show promise for personalized metastatic renal cell carcinoma (RCC) treatment. Research explores gene mutations like VHL, PBRM1, BAP1, and SETD2 for predicting patient outcomes.

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Area of Science:

  • Oncology
  • Genomics
  • Precision Medicine

Background:

  • Metastatic renal cell carcinoma (RCC) treatment has advanced significantly.
  • Personalized care based on tumor genomics is crucial for improving outcomes.
  • Current genomic predictors for RCC treatment response are limited.

Purpose of the Study:

  • To provide a comprehensive overview of genomic evidence in metastatic RCC.
  • To explore the potential predictive and prognostic value of genomic alterations in RCC.
  • To highlight emerging genomic markers for personalized RCC therapy.

Main Methods:

  • Review of existing literature on genomic alterations in RCC.
  • Analysis of mutations in key genes such as VHL, PBRM1, BAP1, and SETD2.
  • Examination of downstream pathways and their association with clinical outcomes.

Main Results:

  • VHL mutations are central to RCC development but their predictive value is debated.
  • Mutations in genes involved in chromosome remodeling, DNA methylation, and repair are associated with clinical outcomes.
  • No single genomic marker currently predicts treatment response or prognosis in RCC.

Conclusions:

  • Genomic profiling holds promise for guiding personalized treatment strategies in RCC.
  • Further research is needed to validate the predictive and prognostic value of identified genomic markers.
  • Understanding the genomic landscape of RCC is essential for advancing precision oncology.