The Approach to the Patient with Paraganglioma

The multidisciplinary management of patients with paragangliomas and pheochromocytomas remains challenging. The cornerstone of excellent multidisciplinary management of such patients is genetic classification and management in a tertiary care referral center. Up to one third of all symptomatic presentations of pheochromocytoma or paraganglioma are due to germline mutations in one of six genes defining multiple endocrine neoplasia type 2, von Hippel-Lindau disease, neurofibromatosis type 1, and the paraganglioma syndromes types 1, 3, and 4. This genetic classification forms the basis early diagnosis and follow-up including management of relatives. Easily available clinical information such as tumor location and number, age, gender, and family history must be used to prioritize which gene should be tested. Mutation carriers should undergo regular check-up to detect and treat metachronous paraganglial and extraparaganglial tumors, and depending on syndrome, other extraparaganglial neoplasias such as medullary thyroid cancer and renal clear cell carcinomas in time. Adrenal and extraadrenal retroperitoneal tumors should be operated by surgeons highly experienced in minimal invasive, endoscopic techniques.