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VHL-associated epididymal lesions

Monday 8 March 2010

Inactivation of the von Hippel-Lindau (VHL) gene and activation of the hypoxia-inducible factor (HIF) in susceptible cells precedes formation of tumorlets and frank tumor in the epididymis of male VHL patients.

There is a pathogenetic continuum between microscopic tumorlets and formation of tumor.

In multiple locations, three-dimensional reconstruction reveals papillary growth to extend deeply into ductular lumina, indicative of progression into early hamartoma-like neoplasia.

Epididymal tumorigenesis in VHL disease to occur in two distinct sequential steps: maldevelopment of VHL-deficient mesonephric cells, followed by neoplastic papillary proliferation.


- Progression of epididymal maldevelopment into hamartoma-like neoplasia in VHL disease. Mehta GU, Shively SB, Duong H, Tran MG, Moncrief TJ, Smith JH, Li J, Edwards NA, Lonser RR, Zhuang Z, Merrill MJ, Raffeld M, Maxwell PH, Oldfield EH, Vortmeyer AO. Neoplasia. 2008 Oct;10(10):1146-53. PMID: 18813354