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Updated: Jun 14, 2026

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
[Clinical case of the month. A case of von Hippel-Lindau disease]
A Bourguignont1, P Blaise, N Janin
1Service d'Ophtalmologie, CHU de Liège, Belgique.
Abstract:
von Hippel-Lindau disease is an inherited multisystemic familial cancer syndrome caused by mutations of the VHL gene. The spectrum of clinical manifestations is broad and includes central nervous system hemangioblastomas and visual benign and malignant tumors. The various manifestations can be demonstrated by means of different imaging techniques such as magnetic resonance imaging, computed tomography, and fluorescein retinal hemangiography. A systematic approach must be followed for repeated screening in patients at risk, since many lesions in VHL disease are treatable.
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