Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

Journal article

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. VH...

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Authors: Srirangalingam, U; Khoo, B; Walker, L; MacDonald, F; Skelly, R

• Publication status: Published
• Journal: Endocrine-related cancer
• Volume: 16
• Issue: 2
• Pages: 515-525
• Publication date: 2009-06-01
• DOI: 10.1677/erc-08-0239
• EISSN: 1479-6821
• ISSN: 1351-0088
• Language: English
• Keywords: Von Hippel-Lindau Tumor Suppressor Protein; Middle Aged; Adult; Cohort Studies; Retrospective Studies; Male; Paraganglioma, Extra-Adrenal; Adrenal Gland Neoplasms; Kidney Neoplasms; Adolescent; Carcinoma, Renal Cell; Succinate Dehydrogenase; Young Adult; Catecholamines; Mutation; Female; Prognosis; Child; Humans; Pheochromocytoma