title: Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations.
abstract: BACKGROUND
  Patients with SDHx mutations need long-term radiological surveillance for the development of paragangliomas and phaeochromocytomas, but no longitudinal data exist. The aim of the study was to assess the performance of rapid-sequence non-contrast magnetic resonance imaging (MRI) in the long-term monitoring of patients with SDHx mutations.
  
  
  METHODS
  Retrospective study between 2005 and 2015 at a University Hospital and regional endocrine genetics referral centre. Clinical and imaging data of 47 patients with SDHx mutations (SDHB (36), SDHC (6) and SDHD (5)) who had surveillance for detection of paragangliomas by rapid-sequence non-contrast MRI (base of skull to pubic symphysis) were collected.
  
  
  RESULTS
  Twelve index cases (nine SDHB, one SDHC and two SDHD) and 35 mutation-positive relatives were monitored for a mean of 6.4 years (range 3.1-10.0 years). Mean age at the end of the study: SDHB 46.9 ± 17.6 years; SDHC 42.3 ± 24.4 years; SDHD 54.9 ± 10.6 years. On excluding imaging at initial diagnosis of index cases, 42 patients underwent 116 rapid-sequence MRI scans: 83 scans were negative and 31 scans were positive for sPGL/HNPGL in 13 patients. Most patients had multiple scans (n = number of patients (number of rapid-sequence MRI scans during screening)): n = 9 (2), n = 20 (3), n = 6 (4), n = 1 (6). Nine patients (three index) were diagnosed with new paragangliomas during surveillance and non-operated tumour size was monitored in nine patients. There were two false-positive scans (1.6%). Scans were repeated every 27 ± 9 months.
  
  
  CONCLUSIONS
  Biannual rapid-sequence non-contrast MRI is effective to monitor patients with SDHx mutations for detection of new tumours and monitoring of known tumours.
authors.affiliation: Academic Unit of DiabetesEndocrinology and Reproduction, Department of Oncology and Metabolism, The Medical School, University of Sheffield, Sheffield, UK.|Department of Endocrinology.
authors.forename: Eleni
authors.initials: E
authors.lastname: Daniel
authors.affiliation: Academic Unit of DiabetesEndocrinology and Reproduction, Department of Oncology and Metabolism, The Medical School, University of Sheffield, Sheffield, UK.|Department of Endocrinology.
authors.forename: Robert
authors.initials: R
authors.lastname: Jones
authors.affiliation: Department of RadiologySheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
authors.forename: Matthew
authors.initials: M
authors.lastname: Bull
authors.affiliation: Academic Unit of DiabetesEndocrinology and Reproduction, Department of Oncology and Metabolism, The Medical School, University of Sheffield, Sheffield, UK j.newellprice@sheffield.ac.uk.|Department of Endocrinology.
authors.forename: John
authors.initials: J
authors.lastname: Newell-Price
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000639:trends*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010235:Paraganglioma / Q000000981:diagnostic imaging / Q000235:genetics*; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics*; D012189:Retrospective Studies; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013997:Time Factors
chemical_list: C491545:SDHD protein, human; D013385:Succinate Dehydrogenase