Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families

Fam Cancer. 2014 Jun;13(2):257-65. doi: 10.1007/s10689-013-9639-6.


Patients with germline mutations in one of the SDH genes are at substantially increased risk of developing paragangliomas, pheochromocytomas (pheos), and other tumors (all combined referred to as SDH-related tumors). However, limited data exist on screening in SDH mutation carriers and no studies have evaluated whole-body MRI as a screening tool in asymptomatic patients. This was a single-center observational study. We evaluated the results of screening in 37 SDH carriers who underwent 45 whole-body MRIs and 47 biochemical tests. Screening included annual biochemical testing (catecholamines, metanephrines and chromogranin A) and biennial or annual rapid sequence whole-body MRI from the base of the skull to the pelvis beginning at age 10 years old. Six tumors (paragangliomas of the organ of Zuckerkandl, the aortocaval/vas deferens, of the carotid body times three, and a renal cell carcinoma) were diagnosed in five patients. In total, 13.5 % of all patients screened were diagnosed with SDH-related tumors. Whole-body MRI missed one tumor, while biochemical testing was normal in five patients with SDH-related tumors. The sensitivity of whole-body MRI was 87.5 % and the specificity was 94.7 %, while the sensitivity of biochemical testing was 37.5 % and the specificity was 94.9 %. Whole-body MRI had a higher sensitivity for SDH-related tumors than biochemical testing in patients undergoing screening due to their SDHB or SDHC mutation status. Whole-body MRI reduces radiation exposure compared to computed tomography scan and time compared to dedicated MRI of the head/neck, thorax, and abdomen/pelvis.

Publication types

  • Observational Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adrenal Gland Neoplasms / diagnosis*
  • Adrenal Gland Neoplasms / genetics
  • Adrenal Gland Neoplasms / metabolism
  • Adult
  • Aged
  • Carotid Body Tumor / diagnosis*
  • Carotid Body Tumor / genetics
  • Carotid Body Tumor / metabolism
  • Catecholamines / blood
  • Catecholamines / urine
  • Child
  • Chromogranin A / blood
  • Chromogranin A / urine
  • Early Detection of Cancer / methods
  • Female
  • Genetic Predisposition to Disease
  • Genital Neoplasms, Male / diagnosis*
  • Genital Neoplasms, Male / genetics
  • Genital Neoplasms, Male / metabolism
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Membrane Proteins / genetics
  • Metanephrine / blood
  • Metanephrine / urine
  • Middle Aged
  • Para-Aortic Bodies
  • Pheochromocytoma / diagnosis*
  • Pheochromocytoma / genetics
  • Pheochromocytoma / metabolism
  • Sensitivity and Specificity
  • Succinate Dehydrogenase / genetics
  • Vas Deferens
  • Whole Body Imaging*
  • Young Adult


  • Catecholamines
  • Chromogranin A
  • Membrane Proteins
  • SDHC protein, human
  • Metanephrine
  • SDHB protein, human
  • Succinate Dehydrogenase