Presentation Authors: Francesco Cianflone*, Dejan Lazarevic, Anna Palmisano, Massimo Freschi, Maria Giulia Scotti, Alessandro Larcher, Marco Morelli, Fabio Muttin, Anna Maria Ferrara, Federico Deho', Antonio Esposito, Roberto Bertini, Alberto Briganti, Andrea Salonia, Claudio Doglioni, Francesco De Cobelli, Giovanni Tonon, Alessandro Del Maschio, Francesco Montorsi, Umberto Capitanio, Milan, Italy
Introduction: In patients diagnosed with a small organ-confined renal cell carcinoma, there is a paucity of potential biomarkers able to predict cancer aggressiveness. The aim of this pilot study is to investigate the applicability of a radio-genomic approach in the assessment and diagnosis of small renal masses.
Methods: To establish the viability of conducting a combined analysis of both radiomic and genomic data, a pilot cohort of 6 patients with < 5cm G2 unilateral non-metastatic T1a-b clear-cell renal cell carcinoma (ccRCC), who underwent surgery was evaluated. Transcriptomic analysis was conducted through RNA-seq, while radiomic data was extracted from pre-operative 4 phase contrast-enhanced multidetector CT scans. Genomic heterogeneity was assessed with principal component analysis (PCA) run on unrestricted data, on a ccRCC-associated gene list and on centred Reads Per Kilobase of transcript, per Million mapped reads values. The underlying pathways and gene ontologies were established with enrichment analysis. In addition, Pearsonâ€™s correlation between radiomic data and the transcription of ccRCC significant genes was fitted, and the resulting data plotted using dendrogram and heatmap plots.
Results: Even in a clinically homogeneous population, the PCA and the enrichment analysis have demonstrated that RCC should be regarded as an intrinsically heterogeneous disease. The analysis of the radiomic features and gene expression correlation using heatmap (fig 1) and dendrogram (fig 2) showed two distinct radiogenomic correlation patterns: the former including 5 distinct radiomic features, and the latter including 2 features.
Conclusions: The current pilot study is the first investigation demonstrating an innovative radiogenomic characterisation of ccRCC. Based on such observations, further investigation into the radiomic and genomic approaches for the enhanced diagnosis of renal cancer is warranted.