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U Srirangalingam, Endocrinology, St. Bartholomew's Hospital, London, EC1A 7BE, United Kingdom
B Khoo, Endcrinology, St Bartholomew's Hospital, London, United Kingdom
L Walker, Clinical Genetics, The Churchill Hospital, Oxford, United Kingdom
F MacDonald, Medical and Molecular Genetics, University of Birmingham School of Medicine, Birmingham, United Kingdom
R Skelly, Department of Medicine, Colchester General Hospital, Colchester, United Kingdom
E George, Department of Medicine, Queen Elizabeth Hospital, King's Lynn, United Kingdom
D Spooner, Oncology Centre, Queen Elizabeth Medical Centre, Birmingham, United Kingdom
L Johnston, Paedriatric Endocrinology, St Bartholomew's Hospital, London, United Kingdom
J Monson, Endcrinology, St Bartholomew's Hospital, London, United Kingdom
A Grossman, Dept. of Endocrinology, St. Bartholomew's Hospital, London, United Kingdom
W Drake, Dept of Endocrinology, St Bartholomews Hospital, United Kingdom
S Akker, london, United Kingdom
P Pollard, Molecular Physiology, Oxford University, Oxford, United Kingdom
N Plowman, Radiation Oncology, St. Bartholomew's Hospital, London, United Kingdom
N Avril, Center for Cancer Imaging, St. Bartholomew's Hospital, London, United Kingdom
D Berney, Cellular Pathology, St. Bartholomew's Hospital, London, United Kingdom
J Burrin, Clinical Biochemistry, St Bartholomew's Hospital, London, United Kingdom
R Reznek, Academic Radiology, St. Bartholomew's Hospital, London, United Kingdom
V Kumar, Clinical Genetics, Great Ormond Street Children's Hospital, London, United Kingdom
E Maher, Medical and Molecular Genetics, University of Birmingham, Birmingham, United Kingdom
S Chew, Endcrinology, St Bartholomew's Hospital, London, United Kingdom

Correspondence: Umasuthan Srirangalingam, Email: usri{at}doctors.org.uk

Abstract

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 current retrospective study was to compare the clinical phenotypes of disease in subjects developing chromaffin tumours as a result of SDHB mutations or VHL disease. 31 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 to 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 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. This data indicates 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.