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Publication Detail
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Srirangalingam U, Khoo B, Walker L, Macdonald F, Skelly RH, George E, Spooner D, Johnston L, Monson JP, Grossman AB, Drake W, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL
  • Publication date:
    10/02/2009
  • Journal:
    Endocrine-related cancer
  • Print ISSN:
    1351-0088
  • Addresses:
    U Srirangalingam, Endocrinology, St. Bartholomew's Hospital, London, EC1A 7BE, United Kingdom.
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.
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