Marie Muller, Pascal Hammel, Anne Couvelard, Anne-Laure Védie, Jérôme Cros, Nelly Burnichon, Agathe Hercent, Alain Sauvanet, Stéphane Richard, Louis de Mestier
BACKGROUND: Von Hippel-Lindau disease (VHL) is a rare autosomal dominant hereditary cancer-predisposition syndrome caused by germline pathogenic variants (PV) in VHL gene. It is associated with a high penetrance of benign and malignant vascular tumors in multiples organs, including pancreatic neuroendocrine tumors (PanNETs), whose long-term natural history is ill-known. METHODS: Patients with both documented germline PV in VHL gene and PanNETs included in the French PREDIR database between 1995 and 2022 were included...
May 6, 2024: Journal of Clinical Endocrinology and Metabolism