<i>VHL</i> missense mutation delineate aggressive clear cell renal cell carcinoma subtype with favorable immunotherapeutic response.

ABSTRACT:

Background

von Hippel-Lindau (VHL) harbors the highest mutational frequency in clear cell renal cell carcinoma (ccRCC). Although VHL mutational subtypes exert diverse impacts on the functionality of the VHL protein, the clinical significance of VHL mutational heterogeneity remains largely obscure.

Methods

This study included a total of 1331 patients with ccRCC from localized data sets, including our localized Zhongshan Hospital (ZSHS) cohort (n=1270) and Zhongshan immune checkpoint blockade cohort (n=61), as well as 525 patients with ccRCC from two publicly available data sets with matched clinical annotation and multidimensional data. According to the putative biological effect, we subclassified VHL mutation into VHL ^Trunc and <

SUBMITTER: Xu Z 

PROVIDER: S-EPMC11499804 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature