title: Identifying molecular genetic features and oncogenic pathways of clear cell renal cell carcinoma through the anatomical (PADUA) scoring system.
abstract: 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.
authors: Department of Radiology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
authors: Hui
authors: H
authors: Zhu
authors: State Key Laboratory for Oncogenes and Related Genes, Division of Gastroenterology and Hepatology, Renji Hospital, Shanghai Institute for Digestive Diseases, Shanghai Jiao-Tong University School of Medicine, Shanghai 200001, China.
authors: Haoyan
authors: H
authors: Chen
authors: Department of Radiology, Renji Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai 200001, China.
authors: Zhiqian
authors: Z
authors: Lin
authors: Department of Urology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
authors: Guohai
authors: G
authors: Shi
authors: Department of Radiology, Ruijin Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai 200025, China.
authors: Xiaozhu
authors: X
authors: Lin
authors: Department of Radiology, Ruijin Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai 200025, China.
authors: Zhiyuan
authors: Z
authors: Wu
authors: Department of Oncology, East Hospital, Tongji University School of Medicine, Shanghai 200120, China.
authors: Xia
authors: X
authors: Zhang
authors: Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT 06269-3156, USA.
authors: Xi
authors: X
authors: Zhang
mesh_terms: D063646:Carcinogenesis / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000000981:diagnostic imaging* / Q000235:genetics*; D058750:Epithelial-Mesenchymal Transition / Q000235:genetics; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D053263:Gene Regulatory Networks; D023281:Genomics / Q000379:methods; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D007680:Kidney Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics*; D008297:Male; D035683:MicroRNAs / Q000235:genetics; D009154:Mutation; D009857:Oncogenes / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D035683:MicroRNAs
keywords: PADUA; gene mutation; miRNA subtypes; oncogenic pathways; renal cell carcinoma