We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
- Authors
Heesterman, Berdine L; Bayley, Jean Pierre; Tops, Carli M; Hes, Frederik J; van Brussel, Bernadette T J; Corssmit, Eleonora P M; Hamming, Jaap F; van der Mey, Andel G L; Jansen, Jeroen C
- Abstract
Hereditary paraganglioma is a benign tumor syndrome with an age-dependent penetrance. Carriers of germline mutations in the SDHB or SDHD genes may develop parasympathetic paragangliomas in the head and neck region or sympathetic catecholamine-secreting abdominal and thoracic paragangliomas (pheochromocytomas). In this study, we aimed to establish paraganglioma risk in 101 asymptomatic germline mutation carriers and evaluate the results of our surveillance regimen. Asymptomatic carriers of an SDHD or SDHB mutation were included once disease status was established by MRI diagnosis. Clinical surveillance revealed a head and neck paraganglioma in 28 of the 47 (59.6%) asymptomatic SDHD mutation carriers. Risk of tumor development was significantly lower in SDHB mutation carriers: 2/17 (11.8%, P=0.001). Sympathetic paragangliomas were encountered in two SDHD mutation carriers and in one SDHB mutation carrier. In conclusion, asymptomatic carriers of an SDHD mutation are at a high risk for occult parasympathetic paraganglioma. SDHB carrier risk is considerably lower, consistent with lower penetrance of SDHB mutations. For both syndromes, the risk of symptomless sympathetic paragangliomas is small.
- Subjects
PARAGANGLIOMA; GENETIC mutation; GERM cells; CATECHOLAMINES; MAGNETIC resonance imaging
- Publication
European Journal of Human Genetics, 2013, Vol 21, Issue 4, p469
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2012.203