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Published in: European Journal of Nuclear Medicine and Molecular Imaging 6/2015

01-05-2015 | Original Article

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

Authors: C. Lepoutre-Lussey, C. Caramella, F. Bidault, D. Déandreis, A. Berdelou, A. Al Ghuzlan, D. Hartl, I. Borget, A.-P. Gimenez-Roqueplo, F. Dumont, F. Deschamps, C. Nascimento, J. Lumbroso, M. Guillaud Bataille, M. Schlumberger, E. Baudin, S. Leboulleux

Published in: European Journal of Nuclear Medicine and Molecular Imaging | Issue 6/2015

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Abstract

Purpose

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 18F-FDG PET/CT in comparison with morphological imaging at initial diagnosis and 1 year of follow-up in this population.

Methods

The study included 30 consecutive relatives with a proven SDHx mutation who were investigated by 18F-FDG PET/CT, gadolinium-enhanced magnetic resonance angiography of the head and neck, thoracic/abdominal/pelvic (TAP) contrast-enhanced CT and/or TAP MRI. 123I-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.

Results

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 18F-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 18F-FDG PET/CT and conventional imaging, 80 % for SRS and 60 % for 123I-MIBG scintigraphy. Overall, disease was detected in 4 % of the subjects at the 1-year follow-up.

Conclusion

18F-FDG PET/CT demonstrated excellent sensitivity but intermediate specificity justifying combined modality imaging in these patients. Given the slow progression of the disease, if 18F-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.
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Metadata
Title
Screening in asymptomatic SDHx mutation carriers: added value of 18F-FDG PET/CT at initial diagnosis and 1-year follow-up
Authors
C. Lepoutre-Lussey
C. Caramella
F. Bidault
D. Déandreis
A. Berdelou
A. Al Ghuzlan
D. Hartl
I. Borget
A.-P. Gimenez-Roqueplo
F. Dumont
F. Deschamps
C. Nascimento
J. Lumbroso
M. Guillaud Bataille
M. Schlumberger
E. Baudin
S. Leboulleux
Publication date
01-05-2015
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Nuclear Medicine and Molecular Imaging / Issue 6/2015
Print ISSN: 1619-7070
Electronic ISSN: 1619-7089
DOI
https://doi.org/10.1007/s00259-015-3003-z

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