Synchronous detection of SDHA-related gallbladder paraganglioma and pancreatic neuroendocrine tumor

Abstract Primary gallbladder paragangliomas are exceedingly rare. Paragangliomas are extraadrenal neuroendocrine tumors that are morphologically inseparable from intraadrenal pheochromocytomas. Paragangliomas and pheochromocytomas are some of the most heritable tumor types in the body and are often associated with other tumors or part of a genetic syndrome. We report a case of gallbladder paraganglioma presenting synchronously with pancreatic neuroendocrine tumor and pulmonary IgG4-related disease in a 74-year old male patient with disseminated prostate cancer. Due to the high rate of germline mutations and the possible syndromal manifestation of paragangliomas as well as pancreatic neuroendocrine tumors, this patient was offered genetic testing, and a pathogenic SDHA germline mutation was found. To our knowledge, this case is the first report of gallbladder paraganglioma associated with pancreatic neuroendocrine tumor. It is likely that the identified SDHA germline mutation plays a role regarding the accumulation of neoplasms in this patient.