Metabolomic Landscape of Renal Cell Carcinoma in Von Hippel-Lindau Syndrome in a Chinese Cohort

Overview

Journal iScience

Publisher Cell Press

Date 2024 Jul 26

PMID 39055909

Authors

Zedan Zhang

Yi Wang

Wuping Yang

Tao Liu

Chuandong Wang

Cong Huang

Yawei Xu

Xiaolin Chen

Jingcheng Zhou

Yizhou Wang

Xiaohua Zhou

Yanqing Gong

Kan Gong

Affiliations

Soon will be listed here.

Abstract

Von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant disorder, where renal cell carcinoma (RCC) serves as a significant cause of mortality. We collected peripheral blood from 61 VHL-RCC patients and 31 healthy individuals, along with 19 paired RCC tumor and adjacent non-malignant samples. Using liquid chromatography-mass spectrometry, we identified 238 plasma and 241 tissue differentially abundant metabolites (DAMs), highlighting key pathways such as arginine and proline metabolism. The top 10 of the 23 DAMs, common to both plasma and tissue, were instrumental in constructing a high-performance diagnostic model. These DAMs demonstrated significant correlations with gene mutation types. Cox regression analysis revealed that plasma levels of N2,N2-dimethylguanosine were associated with the timing of RCC onset in VHL patients, acting as an independent predictive factor. This study enhances diagnostic accuracy for this rare condition and opens new avenues for exploring metabolic mechanisms of the disease and potential therapeutic directions.

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