Context: Mutations of the gene encoding Succinate Dehyrdrogenase B (SDHB) are associated with a highly penetrant phenotype that includes paragangliomas, phaeochromocytomas and renal cell carcinoma.1 Patients with mutations of SDHB require lifelong surveillance, however there is currently no consensus regarding optimal screening regimens.2,3 Due to abnormal glycolytic processing and delay in 18F-fluorodeoxyglucose (18F-FDG) clearance, 18F-fluorodeoxyglucose positron emission tomography with computed tomography (18F-FDG-PET/CT) imaging has theoretical advantages for imaging benign and malignant SDHB mutation-related neoplasms.4
Objective: Determine sensitivity and specificity of 18F-FDG-PET/CT compared to other modalities for SDHB mutation related lesions.
Design: A retrospective audit reviewed adult patients with confirmed SDHB mutation who underwent 18F-FDG-PET/CT at our institution between 1/7/2011 and 30/5/2015. Lesions numbers and locations detected by 18F-FDG-PET/CT were compared to those on CT and any other imaging modalities or histology available.
Results: 26 18F-FDG-PET/CTs were completed on 20 patients during an average follow up was 53 months (range 2-156). 18F-FDG-PET/CT compared to CT showed no additional lesions in 3 of 4 positive studies (75%) with a false positive uptake in the surgical bed of a carotid body tumour in 1 study, and 0 missed lesions in 4 of 4 positive 18F-FDG-PET/CTs. PET more accurately detected bony disease for metastatic paraganglioma than MIBG, but was similar to GaTate, MRI and CT. 22 18F-FDG-PET/CTs (85%) showed no abnormality; of 21 scans with other imaging for comparison, there were 0 missed lesions. 8 of 22 (36%) negative 18F-FDG-PET/CTs correlated with contemporary (within 6 months before) or later CT results, and 4/22 (18%) with other imaging. 9 of 22 (41%) negative 18F-FDG-PET/CTs correlated with other imaging done >6 months prior.
Conclusions: In patients with SDHB mutation, 18F-FDG-PET/CT was at least as sensitive and specific as other imaging modalities, both for metastatic and non-metastatic disease, and may detect bony metastatic disease better than MIBG.