Functional Imaging Experience in a Germline Fumarate Hydratase Mutation–Positive Patient With Pheochromocytoma and Paraganglioma

ABSTRACT Objective: To report the functional imaging experience with a 29-year-old woman carrying a mutation in the fumarate hydratase (FH)-encoding gene and a history of a pheochromocytoma (PHEO) and retroperitoneal paraganglioma (PGL). Methods: The patient was found to have a splice-site mutation in the FH gene at intron 2, c.268-2A>G. To confirm this, immunohistochemical staining was performed on tumor tissue slides from the patient's previous surgeries. The patient underwent biochemical testing for PHEO/PGL, which included chromogranin A and plasma methoxytyramine. The patient's tumors were also imaged using several imaging modalities, including computed tomography (CT), magnetic resonance imaging, ultrasound, and positron emission tomography (PET)/CT studies using [18F]-fluorodeoxyglucose ([18F]-FDG), [18F]-fluorodopamine ([18F]-FDA), [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA), and [68Ga]-tetraazacyclododecanetetraacetic acid–[Tyr3]-octreotate ([68Ga]-DOTATATE) as tracers. Results: The patient ...