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

J Clin Endocrinol Metab. 2013 Jan;98(1):E162-73. doi: 10.1210/jc.2012-2975. Epub 2012 Nov 15.


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.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Gland Neoplasms / diagnosis*
  • Adrenal Gland Neoplasms / diagnostic imaging
  • Adrenal Gland Neoplasms / genetics
  • Adult
  • Algorithms
  • Diagnostic Imaging / methods*
  • Early Detection of Cancer / methods*
  • Female
  • Genetic Testing / methods
  • Head and Neck Neoplasms / diagnosis
  • Head and Neck Neoplasms / diagnostic imaging
  • Head and Neck Neoplasms / genetics
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation / physiology
  • Paraganglioma / diagnosis*
  • Paraganglioma / genetics
  • Pheochromocytoma / diagnosis*
  • Pheochromocytoma / diagnostic imaging
  • Pheochromocytoma / genetics
  • Prospective Studies
  • Protein Isoforms / genetics
  • Radiography
  • Radionuclide Imaging
  • Research Personnel
  • Succinate Dehydrogenase / genetics*
  • Young Adult


  • Protein Isoforms
  • Succinate Dehydrogenase