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Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.

Anne-Paule Gimenez-Roqueplo 1, 2 Aurore Caumont-Prim 3 Claire Houzard 4, 5 Chantal Hignette Anne Hernigou 6 Philippe Halimi 7 Patricia Niccoli 8 Sophie Leboulleux 9, 10 Laurence Amar 11 Françoise Borson-Chazot 12 Catherine Cardot-Bauters 13 Brigitte Delemer 14 Frédéric Chabolle 15 Isabelle Coupier 16 Rossella Libé 17 Mirko Peitzsch Séverine Peyrard 18 Florence Tenenbaum 19, 20 Pierre-François Plouin 6 Gilles Chatellier 21 Vincent Rohmer 22
Abstract :

CONTEXT: Recommendations have not been established concerning imaging to screen SDHx mutation carriers for paraganglioma and pheochromocytoma.

OBJECTIVE: Our objective was to compare the performance of gadolinium-enhanced magnetic resonance angiography, contrast-enhanced computed tomography, and [(123)I]metaiodo-benzylguanidine and somatostatin receptor scintigraphies for detecting head and neck and thoracic-abdominal-pelvic paragangliomas in SDHx mutation carriers.

DESIGN AND SETTING: We conducted a prospective, multicenter study from June 2005 to December 2009 at 23 French medical centers.

PATIENTS: A total of 238 index cases or relatives carrying mutations in SDHD, SDHB, or SDHC genes were included.

INTERVENTION: Images obtained by each technique were analyzed blind, without knowledge of results from other tests, first in each local center and then centrally.

MAIN OUTCOME MEASURES: We evaluated sensitivity, specificity, and likelihood ratios for individual and combinations of tests, the gold standard being the consensus of an expert committee.

RESULTS: 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 [(123)I]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 [(123)I]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.

CONCLUSIONS: 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.

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https://hal.univ-angers.fr/hal-03276605
Contributeur : Okina Université d'Angers <>
Soumis le : vendredi 2 juillet 2021 - 11:38:49
Dernière modification le : mardi 13 juillet 2021 - 03:26:49

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Anne-Paule Gimenez-Roqueplo, Aurore Caumont-Prim, Claire Houzard, Chantal Hignette, Anne Hernigou, et al.. 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, 2013, 98 (1), pp.E162-73. ⟨10.1210/jc.2012-2975⟩. ⟨hal-03276605⟩

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