Screening in asymptomatic SDHx mutation carriers: added value of ^sup 18^F-FDG PET/CT at initial diagnosis and 1-year follow-up

• Published in: European journal of nuclear medicine and molecular imaging Vol. 42; no. 6; p. 868
• Main Authors: Lepoutre-lussey, C, Caramella, C, Bidault, F, Déandreis, D, Berdelou, A, Al Ghuzlan, A, Hartl, D, Borget, I, Gimenez-roqueplo, A-p, Dumont, F, Deschamps, F, Nascimento, C, Lumbroso, J, Guillaud Bataille, M, Schlumberger, M, Baudin, E, Leboulleux, S
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer Nature B.V 01.05.2015
• Subjects: Asymptotic methods; Medical diagnosis; Medical imaging; Medical screening; Mutation
• ISSN: 1619-7070; 1619-7089
• DOI: 10.1007/s00259-015-3003-z

Specific recommendations on screening modalities for paraganglioma (PGL) and phaeochromocytoma (PCC) in asymptomatic SDHx mutation carriers (relatives) are still lacking. We evaluated the added value of ^sup 18^F-FDG PET/CT in comparison with morphological imaging at initial diagnosis and 1 year of follow-up in this population. The study included 30 consecutive relatives with a proven SDHx mutation who were investigated by ^sup 18^F-FDG PET/CT, gadolinium-enhanced magnetic resonance angiography of the head and neck, thoracic/abdominal/pelvic (TAP) contrast-enhanced CT and/or TAP MRI. ^sup 123^I-MIBG scintigraphy was performed in 20 subjects and somatostatin receptor scintigraphy (SRS) in 20 subjects. The gold standard was based on pathology or a composite endpoint as defined by any other positive imaging method and persistent tumour on follow-up. Images were considered as false-positive when the lesions were not detected by another imaging method or not confirmed at 1 year. At initial work-up, an imaging abnormality was found in eight subjects (27 %). The final diagnosis was true-positive in five subjects (two with abdominal PGL, one with PCC and two with neck PGL) and false-positives in the other three subjects (detected with ^sup 18^F-FDG PET/CT in two and TAP MRI in one). At 1 year, an imaging abnormality was found in three subjects of which one was an 8-mm carotid body PGL in a patient with SDHD mutaion and two were considered false-positive. The tumour detection rate was 100 % for ^sup 18^F-FDG PET/CT and conventional imaging, 80 % for SRS and 60 % for ^sup 123^I-MIBG scintigraphy. Overall, disease was detected in 4 % of the subjects at the 1-year follow-up. ^sup 18^F-FDG PET/CT demonstrated excellent sensitivity but intermediate specificity justifying combined modality imaging in these patients. Given the slow progression of the disease, if ^sup 18^F-FDG PET/CT and MRI are normal at baseline, the second imaging work-up should be delayed and an examination that does not expose the patient to radiation should be used.