Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance.
Ana Milena GómezDiogo Cordeiro Queiroz SoaresAlexandre Andre Balieiro Anastacio da CostaDaniele Paixão PereiraMaria Isabel Waddington AchatzMaria Nirvana FormigaPublished in: Archives of endocrinology and metabolism (2019)
PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.