Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers

Hereditary paraganglioma -due to SDH (SDHD, SDHB, SDHC) germline mutations- causes paragangliomas and pheochromocytomas. Presymptomatic genetic testing should be offered to all first-degree relatives if an SDH mutation is detected in an index case with paraganglioma or pheochromocytoma. The main objective of our national clinical research project is to test different screening methods to detect presymptomatic tumors in order to establish guidelines for the work-up and the follow-up of SDH mutation carriers.