Transcriptomic analysis of renal cell carcinoma and cysts in a patient affected by von Hippel Lindau disease

Patients with von Hippel-Lindau (VHL) disease have a high probability to develop multiple primary clear cell renal cell carcinomas (ccRCCs) and kidney cysts throughout their lifetime. Therefore, VHL disease constrained setting provides a ready-made in vivo model to study the development of multiple independent ccRCCs and kidney cysts from the same patient, thus keeping a constant genetic background and systemic and local environment. This offers unique opportunities to comprehensively understand the drivers of cancer evolution while providing distinctions from benign lesions. In order to perform a characterization of concomitant and independent ccRCC lesions and kidney cysts in the same individual, we conducted a transcriptomic profiling on multiple kidney lesions from one VHL patient. Overall design: Six ccRCC primary tumor lesions (i.e., L1, L2, L4, L5.1, L7 and R10), three renal cysts (i.e., LC1, LC2, and LC4) and one normal renal parenchyma sample (i.e. LN) from the same VHL-disease patient were processed with bulk RNA-sequencing.