Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: Significant link to SDHB mutations

Abstract

Purpose: To present data on the high rate of SDHB mutations in patients with metastatic pheochromocytoma/ paraganglioma whose initial tumor presentation began in childhood or adolescence. Patients and Methods: From 2000 to 2010, 263 patients with pheochromocytoma/paraganglioma were evaluated through the National Institutes of Health (NIH), Bethesda, MD. Of the 263 patients, 125 patients were found to have metastatic disease; of these 125 patients, 32 patients presented with a tumor before 20 years of age. An additional 17 patients presented with a tumor before 20 years of age but demonstrated no development of metastatic disease. Genetic testing for mutations in the VHL, MEN, and SDHB/C/D ge..