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.