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Department of Endocrinology, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK
¹ Department of Clinical Genetics, The Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK
² Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Birmingham B15 2TT, UK
³ Department of Medicine, Colchester General Hospital, Colchester, Essex CO4 5JL, UK
⁴ Department of Medicine, Queen Elizabeth Hospital, King's Lynn, Norfolk PE30 4ET, UK
⁵ Oncology Centre, Queen Elizabeth Medical Centre, Birmingham B15 2TH, UK
⁶ Henry Wellcome Building for Molecular Physiology, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
⁷ Radiation Oncology
⁸ Center for Cancer Imaging
⁹ Cellular Pathology
¹⁰ Clinical Biochemistry, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK
¹¹ Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK

(Correspondence should be addressed to U Srirangalingam; Email: u.srirangalingam{at}qmul.ac.uk)

Mutations in succinate dehydrogense-B (SDHB) and the von Hippel-Lindau (VHL) genes result in an increased risk of developing chromaffin tumours via a common aetiological pathway. The aim of the present retrospective study was to compare the clinical phenotypes of disease in subjects developing chromaffin tumours as a result of SDHB mutations or VHL disease. Thirty-one subjects with chromaffin tumours were assessed; 16 subjects had SDHB gene mutations and 15 subjects had a diagnosis of VHL. VHL-related tumours were predominantly adrenal phaeochromocytomas (22/26; 84.6%), while SDHB-related tumours were predominantly extra-adrenal paragangliomas (19/25; 76%). Median age at onset of the first chromaffin tumour was similar in the two cohorts. Tumour size was significantly larger in the SDHB cohort in comparison with the VHL cohort (P=0.002). Multifocal disease was present in 9/15 (60%) of the VHL cohort (bilateral phaeochromocytomas) and only 3/16 (19%) of the SDHB cohort, while metastatic disease was found in 5/16 (31%) of the SDHB cohort but not in the VHL cohort to date. The frequency of symptoms, hypertension and the magnitude of catecholamine secretion appeared to be greater in the SDHB cohort. Renal cell carcinomas were a feature in 5/15 (33%) of the VHL cohort and 1/16 (6%) of the SDHB cohort. These data indicate that SDHB-related tumours are predominantly extra-adrenal in location and associated with higher catecholamine secretion and more malignant disease, in subjects who appear more symptomatic. VHL-related tumours tend to be adrenal phaeochromocytomas, frequently bilateral and associated with a milder phenotype.