AI Article Synopsis
- Hereditary paraganglioma is a benign tumor syndrome linked to mutations in the SDHB and SDHD genes, affecting the development of tumors in the head, neck, and abdomen.
- In a study of 101 asymptomatic carriers, 59.6% of those with SDHD mutations had tumors detected through clinical surveillance, while only 11.8% of SDHB mutation carriers developed tumors.
- Overall, SDHD mutation carriers have a high risk for hidden tumors, while the risk for SDHB carriers is much lower, with minimal risk for symptomless sympathetic paragangliomas in both groups.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598327 | PMC |
| http://dx.doi.org/10.1038/ejhg.2012.203 | DOI Listing |
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