Pheochromocytoma as the first manifestation of von Hippel-Lindau disease.

Background: von Hippel-Lindau disease is an autosomal dominant disorder characterized by the development of hemangioblastomas in the cerebellum, spinal cord, and retina, renal cell carcinoma and cysts, pancreatic cysts, and pheochromocytoma.

Methods: We have studied a series of 36 French patients affected with von Hippel-Lindau disease pheochromocytoma. Thirty (83%) of them were diagnosed as having von Hippel-Lindau disease because the disease occurred in a familial von Hippel-Lindau disease setting; six (17%) were diagnosed as having von Hippel-Lindau disease because they displayed another characteristic manifestation of that disease.

[Comparative secretory profiles of benign and malignant pheochromocytomas].

Distant metastases are the only clue for diagnosis of malignancy in pheochromocytoma patients. This study was designed to define a secretory profile possibly suggestive of malignancy. Among 79 pheochromocytomas (55 benign, 24 malignant), dopamine-secretion, either exclusive or blended with other catecholamines was found in 34.

[Pheochromocytoma, first manifestation of Von Hippel-Lindau disease: a possibility to be considered].

Von Hippel-Lindau (VHL) disorder is an autosomal dominant disease characterized by the almost constant development of hemangioblastomas in the central nervous system (cerebellum, spinal cord and retina). In addition, various types of tumors including renal cell carcinomas, pancreatic cysts and pheochromocytomas are frequently observed in VHL gene carriers. Linkage of the VHL locus to the RAF-1 oncogene on the short arm of chromosome 3 (3p25-26) has been recently reported.