Searchable abstracts of presentations at key conferences in endocrinology

ea0063p427 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Genetic mutations in bladder paragangliomas - not just SDHB-related disease

Anandappa Samantha , Breen Louise , Thurairaja Ramesh , Christodoulou Dimitra , Jacques Audrey , Velusamy Anand , McGowan Barbara , Izatt Louise , Carroll Paul

Bladder Paragangliomas (PGLs) are rare forms of neuroendocrine tumours arising from sympathetic paraganglionic tissue. They account for <1% of all Pheochromocytomas and Paragangliomas (PPGLs) and < 0.06% of all bladder tumours. All patients with PPGLs are recommended to be considered for genetic testing as ~ 40% of PPGLs are associated with a germline mutation, even if there is no prior family history of disease. Identifying an inherited PPGL predisposition has importa...