title: A family with pheochromocytoma-paraganglioma inherited tumour syndrome. Serial 18F-DOPA PET/CT investigations.
abstract: OBJECTIVE
  Hereditary pheochromocytoma-paraganglioma syndromes are characterized by multiple pheochromocytomas (PCC) and paragangliomas (PGLs), inherited in an autosomal dominant manner. Early detection and removal of tumours may prevent or minimize complications related to mass effects and malignant transformation. Having confirmed the diagnosis, it is important to localize the tumours and reveal their extent preoperatively. This study aimed to introduce 18F-DOPA PET/CT as a highly sensitive non-invasive diagnostic tool for early detection of mass lesions in patients with pheochromocytoma-paraganglioma inherited tumour syndrome and to report about its impact on patient management.
  
  
  METHODS
  We are currently supervising one of the largest documented families in Germany with genetically determined SDHD gene mutation. We performed 18F-DOPA PET/CT in order to detect tumours in asymptomatic gene carriers and enable subsequent surgical therapy.
  
  
  RESULTS
  In seven patients undergoing 12 18F-DOPA PET/CT scans 17 lesions have been detected. Three of these lesions, located in the head and neck region, have had no morphologic correlate in CT and one had also no morphologic correlate in MRI. Of the six histologically analyzed lesions five have been tumors (PGL or PCC) and one has been a nodular hyperplasia. This means the 18F-DOPA PET/CT scan in our study group had a sensitivity of 83%. 18F-DOPA PET/CT investigations lead to change in the management in 5/7 studied patients (70%).
  
  
  CONCLUSIONS
  The benefits of PET/CT in detection of pheochromocytoma and paraganglioma are well documented, but we are the first to use this technique for screening of a rare hereditary disease (estimated prevalence 0.3/100 000).
authors.affiliation: Bettina Knie, Klinik für Neurochirurgie, Vivantes Klinikum im Friedrichshain, Landsberger Allee 49, 10249 Berlin, Germany, Tel. +49/(0)30/130 23-15 26, Fax -20 57, bettina.knie@vivantes.de.
authors.forename: B
authors.initials: B
authors.lastname: Knie
authors.forename: M
authors.initials: M
authors.lastname: Plotkin
authors.forename: P
authors.initials: P
authors.lastname: Zschieschang
authors.forename: V
authors.initials: V
authors.lastname: Prasad
authors.forename: D
authors.initials: D
authors.lastname: Moskopp
mesh_terms: D000328:Adult; D004295:Dihydroxyphenylalanine / Q000031:analogs & derivatives*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000000981:diagnostic imaging* / Q000235:genetics*; D010235:Paraganglioma / Q000000981:diagnostic imaging* / Q000235:genetics*; D000072078:Positron Emission Tomography Computed Tomography / Q000379:methods*; D019275:Radiopharmaceuticals; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D019275:Radiopharmaceuticals; C043437:fluorodopa F 18; D004295:Dihydroxyphenylalanine
keywords: 18F-DOPA PET/CT; SDHD mutation; inherited tumour syndrome; paraganglioma; pheochromocytoma; screening