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Anne-Paule Gimenez-Roqueplo, Aurore Caumont-Prim, Claire Houzard, Chantal Hignette, Anne Hernigou, Philippe Halimi, Patricia Niccoli, Sophie Leboulleux, Laurence Amar, Françoise Borson-Chazot, Catherine Cardot-Bauters, Brigitte Delemer, Frédéric Chabolle, Isabelle Coupier, Rossella Libé, Mirko Peitzsch, Séverine Peyrard, Florence Tenenbaum, Pierre-François Plouin, Gilles Chatellier, Vincent Rohmer, Imaging Work-Up for Screening of Paraganglioma and Pheochromocytoma in SDHx Mutation Carriers: A Multicenter Prospective Study from the PGL.EVA Investigators, The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 1, 1 January 2013, Pages E162–E173, https://doi.org/10.1210/jc.2012-2975
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Abstract
Recommendations have not been established concerning imaging to screen SDHx mutation carriers for paraganglioma and pheochromocytoma.
Our objective was to compare the performance of gadolinium-enhanced magnetic resonance angiography, contrast-enhanced computed tomography, and [123I]metaiodo-benzylguanidine and somatostatin receptor scintigraphies for detecting head and neck and thoracic-abdominal-pelvic paragangliomas in SDHx mutation carriers.
We conducted a prospective, multicenter study from June 2005 to December 2009 at 23 French medical centers.
A total of 238 index cases or relatives carrying mutations in SDHD, SDHB, or SDHC genes were included.
Images obtained by each technique were analyzed blind, without knowledge of results from other tests, first in each local center and then centrally.
We evaluated sensitivity, specificity, and likelihood ratios for individual and combinations of tests, the gold standard being the consensus of an expert committee.
Two hundred two tumors were diagnosed in 96 subjects. At local assessment, the sensitivity of anatomical imaging for detecting all tumors was higher (85.7%) than that of both scintigraphic techniques (42.7% for [123I]metaiodo-benzylguanidine and 69.5% for somatostatin receptor scintigraphy), except for thoracic localizations where somatostatin receptor scintigraphy was more sensitive (61.5 vs. 46.2% for anatomical imaging and 30.8% for [123I]metaiodo-benzylguanidine scintigraphy). The best diagnostic performance during local assessment was obtained by combining anatomical imaging tests and somatostatin receptor scintigraphy (sensitivity 91.7%). Central assessment significantly increased the sensitivity (98.6%) of tests in combination.
In routine practice, the imaging work-up for screening SDHx mutation carriers should include thoraco-abdomino-pelvic computed tomography, head and neck magnetic angiography, and somatostatin receptor scintigraphy. Expert centralized image assessment is recommended.
