Intra- and inter-tumoural heterogeneity in von Hippel-Lindau disease-related renal cancer: a multimodal data study protocol.

ABSTRACT: von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome caused by germline pathogenic variants in the VHL gene. The current standard of care primarily involves surgical resection, which is arbitrarily recommended for renal tumours ≥ 3 cm to reduce the risk of metastasis. However, this approach often leads to repeated surgeries and increased patient morbidity. The key unmet clinical need for VHL patients is the ability to predict the most appropriate therapeutic strategy and the optimal timing for surgical intervention on an individualised basis. Here, we describe a methodology designed to create an integrated map of intra- and inter-tumour heterogeneity in VHL-associated clear cell renal cell carcinoma by combining radiomics, histology, RNA sequencing, whole genome sequencing,

SUBMITTER: Rowe I 

PROVIDER: S-EPMC12620338 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature