Study of Somatic Mutations and Tumor Development in Kidney Tubule Cells from Patients with Von Hippel Lindau Disease Compared to Controls

What this Trial Is About

This research aims to understand somatic mutations in normal kidney cells of patients with Von Hippel Lindau VHL disease, a genetic condition that increases the risk of kidney cancer. The study compares mutation rates in kidney cells from VHL patients to those from individuals without the disease, seeking to discover if mutations accumulate more in VHL patients and what factors influence these changes. Participants will provide one blood sample and multiple urine samples annually for 3 to 5 years. The urine samples are used to isolate kidney tubule cells, which are then cultured and analyzed genetically. If participants undergo kidney tumor surgery, tissue samples from the tumor and nearby normal kidney will also be collected for genetic testing. The study includes two groups VHL patients and control individuals without the disease. During the study, researchers will monitor mutation rates in kidney cells collected from urine over about three years, with a minimum of 3 months and up to 3 years of observation. They will also quantify pre-cancer cells in these samples. Sample collection aligns with patients yearly hospital screenings. The study aims to better understand mutation patterns that may lead to tumor development in VHL disease.

Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells