Utility of FDG-PET imaging in screening for succinate dehydrogenase B and D mutation-related lesions

Summary Objective Mutations of the genes encoding succinate dehydrogenase B and D (SDHB, SDHD) are associated with highly penetrant phenotypes, including paragangliomas and phaeochromocytomas. Patients with these mutations require lifelong surveillance; however, there is currently ambiguity regarding the optimal screening regimen. We sought to determine the utility of fluorodeoxyglucose (18F) positron emission tomography (18F‐FDG PET) imaging, compared to other modalities for detecting SDHB and SDHD mutation‐related lesions. Design A retrospective audit of patients with SDHB or SDHD mutation. Patients All adult patients with confirmed SDHB and SDHD mutations who underwent 18F‐FDG PET/CT at our institution between 1 July 2011 and 30 May 2015. Measurements 18F‐FDG PET/computed tomography (CT) performed during surveillance of patients with SDHB and SDHD mutations. Lesion numbers and locations detected by 18F‐FDG PET were compared to those identified on the CT component, as well as other imaging modalities and histology when available. Results Thirty‐one 18F‐FDG PET/CT studies were completed on 22 patients. For SDHB (20 patients), there were five positive and 21 negative studies. There were no false‐negative 18F‐FDG PET studies. Positive 18F‐FDG PET findings correlated with magnetic resonance imaging (MRI), CT and [68 Ga]‐DOTA(0)‐Tyr(3)‐octreotate (68 Ga DOTATATE PET/CT) imaging with no missed lesions; the only potential false‐positive result relating to nonspecific postoperative changes (sensitivity 100·0%, specificity 95·5%). For SDHD (two patients), lesions were detected on 18F‐FDG PET and correlated with other imaging in three of five studies. Metastatic lesions were incompletely visualized on 18F‐FDG PET but were detected on the noncontrast fusion CT. Conclusions 18F‐FDG PET/CT is suitable for detecting SDHB and SDHD mutation‐related lesions and may be considered effective for periodic surveillance of patients with these mutations.