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CA9 Gene Single Nucleotide Polymorphism Predicts Metastatic Renal Cell Carcinoma Prognosis

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— 1 min read

Researchers in the United States assessed the association between CA9 single nucleotide polymorphisms and mutations, and their impact on CAIX protein expression, overall survival, and response to interleukin-2 in patients with metastatic clear cell renal cell carcinoma. The study analyzed genomic DNA from frozen tumor samples of 54 patients and found that CA9 reference single nucleotide polymorphisms were present in a significant portion of patients, with the deletion c.376del393 observed in 2 patients. High CAIX expression was associated with longer median survival, and the C allele variant of rs12553173 had improved median survival and a greater likelihood of an interleukin-2 response.

Key Takeaways:

  • CA9 single nucleotide polymorphisms and mutations were associated with CAIX protein expression, overall survival, and response to interleukin-2 in patients with metastatic clear cell renal cell carcinoma.
  • CA9 reference single nucleotide polymorphisms rs2071676, rs12553173, rs3829078, and rs1048638 were found in 59%, 15%, 11%, and 33% of patients, respectively.
  • The deletion c.376del393 was observed in 2 patients.
  • High CAIX expression was associated with longer median survival, with a median survival of 25.5 vs 8.5 months in patients with low CAIX expression.
  • The C allele variant of rs12553173 had improved median survival (27.3 vs 13.6 months, p = 0.0431) and a greater likelihood of an interleukin-2 response (57% vs 22%, p = 0.081).
  • CA9 rs12553173 and CAIX are independent prognostic factors of overall survival and complement each other for predicting the prognosis of metastatic clear cell renal cell carcinoma.

Statistics:

  • 54 metastatic clear cell renal cell carcinoma patients were analyzed in the study.
  • 59% of patients had CA9 reference single nucleotide polymorphism rs2071676.
  • 15% of patients had CA9 reference single nucleotide polymorphism rs12553173.
  • 11% of patients had CA9 reference single nucleotide polymorphism rs3829078.
  • 33% of patients had CA9 reference single nucleotide polymorphism rs1048638.
  • 2 patients had the deletion c.376del393.
  • 65% of patients had CAT-K expression greater than 85%.
  • The C allele variant of rs12553173 had improved median survival of 27.3 months.
  • The C allele variant of rs12553173 had a greater likelihood of an interleukin-2 response of 57%.

Sources:

  • Demartino et al. (2009). CA9 Gene: Single Nucleotide Polymorphism Predicts Metastatic Renal Cell Carcinoma Prognosis. Journal of Urology, 182(2), 728-734.
  • University of California, Division of Urology Oncology, Dept. of Urology. (n.d.). Contact Information.
  • Elsevier Science Inc. (n.d.). Contact Information.

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