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The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
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Molecular and Genomic Profiling to Identify Actionable Targets in Chromophobe Renal Cell Cancer

Philip Abbosh1, Srinath Sundararajan2, Sherri Z Millis3

  • 1Division of Urological Oncology, Department of Surgical Oncology, Fox Chase Cancer Center, Philadelphia, PA, USA.

European Urology Focus
|July 30, 2017
PubMed

Insights

Molecular profiling of rare metastatic chromophobe renal cell cancer (chRCC) identified key genetic alterations. These findings may guide targeted therapies and clinical trials for advanced chRCC.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Metastatic chromophobe renal cell cancer (chRCC) is a rare subtype of renal cell carcinoma lacking standard treatment options.
  • Molecular profiling is crucial for identifying therapeutic targets in rare cancers.

Discussion:

  • This study analyzed 12 chRCC cases using immunohistochemistry, FISH, and next-generation sequencing.
  • Identified c-KIT overexpression (67%), loss of RRM1/MGMT (92%), and PTEN loss (58%).
  • Detected mutations in TP53, PTEN, APC, and VHL genes.

Key Insights:

  • Specific molecular alterations in chRCC suggest potential therapeutic vulnerabilities.
  • Overexpression of c-KIT and loss of RRM1, MGMT, and PTEN are notable findings.
  • Genetic mutations in TP53, PTEN, APC, and VHL provide further targets.

Outlook:

  • Molecular data provides a rationale for off-label use of existing therapies in advanced chRCC.
  • Findings can inform the design of future molecularly targeted clinical trials for chRCC.
  • Individualized treatment strategies may improve outcomes for patients with this rare cancer.
Keywords:
ChemotherapyChromophobe renal carcinomaGeneticsMolecular profiling

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