18F-DOPA PET/CT in the evaluation of hereditary SDH-deficiency paraganglioma-pheochromocytoma syndromes

PURPOSE: This study aims to evaluate the role of ¹⁸F-DOPA PET/CT in staging and follow-up of paraganglioma syndromes succinate dehydrogenase (SDH)-mutation-related patients, comparing ¹⁸F-DOPA PET/CT results with morphological imaging and biochemical results. PATIENTS AND METHODS: We retrospectively studied 10 consecutive patients (3 F, 7 M, mean age 32 yrs), all with a genetically demonstrated SDH mutation (5 SDH-D, 4 SDH-B, and 1 SDH-C) and all addressed to ¹⁸F-DOPA PET/CT scan. Seven patients had already been operated on for one or more pheochromocytomas and/or paragangliomas and were submitted to ¹⁸F-DOPA PET/CT scan according to clinical, biochemical, or radiological suspicion of recurrence, while 3 were only genetically positive, with no previous symptom/sign of the disease. For all patients, biochemical analysis (plasma and/or urinary catecholamine) and results of high-resolution morphological imaging studies (CT and/or MRI) were available. Histologic/cytologic findings or imaging and biochemical follow-up were taken as gold standard in all cases. RESULTS: Seven out of 10 patients showed one or more areas of pathological ¹⁸F-DOPA accumulation. PET/CT demonstrated the presence of the disease in 4/6 patients with no increase in catecholamine levels ("biochemically silent"). Positive detection rate was 100% in SDH-D and 40% in "non-SDHD". Analyzing per lesion, ¹⁸F-DOPA PET/CT demonstrated more lesions than anatomical imaging (16 vs. 7) especially in head and neck paragangliomas. CONCLUSIONS: ¹⁸F-DOPA PET/CT seems to be the more accurate method for staging and restaging patients with SDH-mutations-related paraganglioma syndromes. ¹⁸F-DOPA is particularly useful in detecting head and neck and biochemically silent paragangliomas, and also in apparently healthy mutation-carrying people.