Identifying molecular genetic features and oncogenic pathways of clear cell renal cell carcinoma through the anatomical (PADUA) scoring system

Although the preoperative aspects and dimensions used for the PADUA scoring system were successfully applied in macroscopic clinical practice for renal tumor, the relevant molecular genetic basis remained unclear. To uncover meaningful correlations between the genetic aberrations and radiological features, we enrolled 112 patients with clear cell renal cell carcinoma (ccRCC) whose clinicopathological data, genomics data and CT data were obtained from The Cancer Genome Atlas (TCGA) and The Cancer Imaging Archive (TCIA). Overall PADUA score and several radiological features included in the PADUA system were assigned for each ccRCC. Despite having observed no significant association between the gene mutation frequency and the overall PADUA score, correlations between gene mutations and a few radiological features (tumor rim location and tumor size) were identified. A significant association between rim location and miRNA molecular subtypes was also observed. Survival analysis revealed that tumor size > 7 cm was significantly associated with poor survival. In addition, Gene Set Enrichment Analysis (GSEA) on mRNA expression revealed that the high PADUA score was related to numerous cancer-related networks, especially epithelial to mesenchymal transition (EMT) related pathways. This preliminary analysis of ccRCC revealed meaningful correlations between PADUA anatomical features and molecular basis including genomic aberrations and molecular subtypes.