Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

Srirangalingam, U; Walker, L; Khoo, B; MacDonald, F; Gardner, D; Wilkin, T; Skelly, R; George, E; Spooner, D; Monson, J; Grossman, AB; Akker, SA; Pollard, P; Plowman, N; Avril, N; Berney, D; Burrin, J; Reznek, R; Kumar, V; Maher, E; Chew, S

Journal article

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

Abstract:: OBJECTIVE: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations. The aim of this study was to describe the clinical manifestations of subjects with SDH-B gene mutations. DESIGN: Retrospective case-series. PATIENTS: Thirty-two subjects with SDH-B gene mutations followed up between 1975 and 2007. Mean follow-up of 5.8 years (SD 7.4, range 0-31). Patients seen at St Bartholomew's Hospital, London and other UK centres. MEASUREMENTS: Features of clinical presentation, genetic mutations, tumour location, catecholamine secretion, clinical course and management. RESULTS: Sixteen of 32 subjects (50%) were affected by disease. Two previously undescribed mutations in the SDH-B gene were noted. A family history of disease was apparent in only 18% of index subjects. Mean age at diagnosis was 34 years (SD 15.4, range 10-62). 50% of affected subjects had disease by the age of 26 years. 69% (11 of 16) were hypertensive and 80% (12 of 15) had elevated secretions of catecholamines/metabolites. 24% (6 of 25) of tumours were located in the adrenal and 76% (19 of 25) were extra-adrenal. 19% (3 of 16) had multifocal disease. Metastatic paragangliomas developed in 31% (5 of 16). One subject developed a metastatic type II papillary renal cell carcinoma. The cohort malignancy rate was 19% (6 of 32). Macrovascular disease was noted in two subjects without hypertension. CONCLUSION: SDH-B mutation carriers develop disease early and predominantly in extra-adrenal locations. Disease penetrance is incomplete. Metastatic disease is prominent but levels are less than previously reported. Clinical manifestations may include papillary renal cell carcinoma and macrovascular disease.

Publication status:: Published

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APA Style

Srirangalingam, U., Walker, L., Khoo, B., MacDonald, F., Gardner, D., Wilkin, T., Skelly, R., George, E., Spooner, D., Monson, J., Grossman, A. B., Akker, S. A., Pollard, P., Plowman, N., Avril, N., Berney, D., Burrin, J., Reznek, R., Kumar, V., … Chew, S. (2008). Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clinical Endocrinology, 69(4), 587–596.

MLA Style

Srirangalingam, U, et al. “Clinical Manifestations of Familial Paraganglioma and Phaeochromocytomas in Succinate Dehydrogenase B (SDH-B) Gene Mutation Carriers.” Clinical Endocrinology, vol. 69, no. 4, 2008, pp. 587–96.

Chicago Style

Srirangalingam, U, L Walker, B Khoo, et al. 2008. “Clinical Manifestations of Familial Paraganglioma and Phaeochromocytomas in Succinate Dehydrogenase B (SDH-B) Gene Mutation Carriers.” Clinical Endocrinology 69 (4): 587–96.
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