Context: Von Hippel-Lindau disease (VHLD) is a rare inherited neoplastic syndrome. Among all the VHLD-associated tumors, clear cell renal cell carcinoma (ccRCC) is the major cause of death.
Objective: The aim of this paper is the discovery of new non-invasive biomarker for the monitoring of VHLD patients.
Materials and methods: We compared the urinary proteome of VHLD patients, ccRCC patients and healthy volunteers.
Results: Among all differentially expressed proteins, alpha-1-antitrypsin (A1AT) and APOH (beta-2-glycoprotein-1) are strongly over-abundant only in the urine of VHLD patients with a history of ccRCC.
Discussion and conclusion: A1AT and APOH could be promising non-invasive biomarkers.
Keywords: Von Hippel–Lindau disease; beta-2-glycoprotein-1 and alpha-1-antitrypsin; proteomics; renal cancer; urine.