title: Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.
abstract: BACKGROUND
  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.
  
  
  METHODS
  We conducted a prospective, multicenter study from June 2005 to December 2009 at 23 French medical centers.
  
  
  METHODS
  A total of 238 index cases or relatives carrying mutations in SDHD, SDHB, or SDHC genes were included.
  
  
  METHODS
  Images obtained by each technique were analyzed blind, without knowledge of results from other tests, first in each local center and then centrally.
  
  
  METHODS
  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.
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France. anne-paule.gimenez-roqueplo@egp.aphp.fr
authors.forename: Anne-Paule
authors.initials: AP
authors.lastname: Gimenez-Roqueplo
authors.forename: Aurore
authors.initials: A
authors.lastname: Caumont-Prim
authors.forename: Claire
authors.initials: C
authors.lastname: Houzard
authors.forename: Chantal
authors.initials: C
authors.lastname: Hignette
authors.forename: Anne
authors.initials: A
authors.lastname: Hernigou
authors.forename: Philippe
authors.initials: P
authors.lastname: Halimi
authors.forename: Patricia
authors.initials: P
authors.lastname: Niccoli
authors.forename: Sophie
authors.initials: S
authors.lastname: Leboulleux
authors.forename: Laurence
authors.initials: L
authors.lastname: Amar
authors.forename: Françoise
authors.initials: F
authors.lastname: Borson-Chazot
authors.forename: Catherine
authors.initials: C
authors.lastname: Cardot-Bauters
authors.forename: Brigitte
authors.initials: B
authors.lastname: Delemer
authors.forename: Frédéric
authors.initials: F
authors.lastname: Chabolle
authors.forename: Isabelle
authors.initials: I
authors.lastname: Coupier
authors.forename: Rossella
authors.initials: R
authors.lastname: Libé
authors.forename: Mirko
authors.initials: M
authors.lastname: Peitzsch
authors.forename: Séverine
authors.initials: S
authors.lastname: Peyrard
authors.forename: Florence
authors.initials: F
authors.lastname: Tenenbaum
authors.forename: Pierre-François
authors.initials: PF
authors.lastname: Plouin
authors.forename: Gilles
authors.initials: G
authors.lastname: Chatellier
authors.forename: Vincent
authors.initials: V
authors.lastname: Rohmer
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D000465:Algorithms; D003952:Diagnostic Imaging / Q000379:methods*; D055088:Early Detection of Cancer / Q000379:methods*; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D010235:Paraganglioma / Q000175:diagnosis* / Q000235:genetics; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011446:Prospective Studies; D020033:Protein Isoforms / Q000235:genetics; D011859:Radiography; D011877:Radionuclide Imaging; D012108:Research Personnel; D013385:Succinate Dehydrogenase / Q000235:genetics*; D055815:Young Adult
chemical_list: D020033:Protein Isoforms; D013385:Succinate Dehydrogenase