Gene expression analysis of aggressive clinical T1 stage clear cell renal cell carcinoma for identifying potential diagnostic and prognostic biomarkers

Jee Soo Park, Phillip M. Pierorazio, Ji Hyun Lee, Hyo Jung Lee, Young Soun Lim, Won Sik Jang, Jongchan Kim, Seung Hwan Lee, Koon Ho Rha, Nam Hoon Cho, Won Sik Ham

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The molecular characteristics of early-stage clear cell renal cell carcinomas (ccRCCs) measuring ≤7 cm associated with poor clinical outcomes remain poorly understood. Here, we sought to validate genes associated with ccRCC progression and identify candidate genes to predict ccRCC aggressiveness. From among 1069 nephrectomies performed on patients, RNA sequencing was performed for 12 ccRCC patients with aggressive characteristics and matched pairs of 12 ccRCC patients without aggressive characteristics. Using a prospective cohort ( Identifier: NCT03694912), the expression levels of nine genes (PBRM1, BAP1, SETD2, KDM5C, FOXC2, CLIP4, AQP1, DDX11, and BAIAP2L1) were measured by reverse-transcription polymerase chain reaction from frozen tissues, and their relation to Fuhrman grade was investigated in 70 patients with small ccRCC (≤4 cm). In total, 251 genes were differentially expressed and presented fold changes with pvalues < 0.05; moreover, 10 genes with the greatest upregulation or downregulation in aggressive ccRCC remained significant even after adjustment. We validated previously identified genes that were associated with ccRCC progression and identified new candidate genes that reflected the aggressiveness of ccRCC. Our study provides new insight into the tumor biology of ccRCC and will help stratify patients with early-stage ccRCC by molecular subtyping.

Original languageEnglish
Article number222
Issue number1
Publication statusPublished - 2020 Jan


All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

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