First case report of pheochromocytoma of genetic origin in Peru: von Hippel-Lindau disease type 2 C

Concepción-Zavaleta M.; Massucco-Revoredo F.G.; Fuentes-Mendoza J.M.; Rivera-Fabián K.; Concepción-Urteaga L. · Anales de la Facultad de Medicina (2025) · DOI: 10.15381/anales.v86i3.30459

Resumen

von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by mutations in the VHL gene, predisposing to tumors such as pheochromocytomas. We report the first Peruvian case of genetically confirmed pheochromocytoma (VHL type 2C) in a 15-year-old female with a family history of the disease. She presented with hypertension, headaches, and palpitations, along with elevated urinary metanephrines and a right adrenal mass. 18F-FDG PET/CT additionally revealed a hypermetabolic osteolytic rib lesion (osteofibrous dysplasia). Histopathology after adrenalectomy and rib resection confirmed pheochromocytoma and osteofibrous dysplasia. Genetic testing identified the VHL p.Arg161Gln mutation. At two-year follow-up, no recurrence was observed. We highlight the importance of genetic testing and multidisciplinary follow-up in hereditary pheochromocytomas.

Instituciones: Universidad Científica del Sur