The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

Autor:	Else T; Department of Internal Medicine, Divisions of Metabolism Endocrinology and Diabetes (T.E., R.J.A.), Molecular Medicine and Genetics (J.N.E., V.M.R.), and Gastroenterology (E.M.S.), Department of Human Genetics (M.L.M.), and Department of Otolaryngology-Head and Neck Surgery (H.A.A.) at the University of Michigan Hospital and Health Systems, Ann Arbor, Michigan 48109; and Norris Cancer Center (S.B.G.), University of Southern California, Los Angeles, California 90033., Marvin ML, Everett JN, Gruber SB, Arts HA, Stoffel EM, Auchus RJ, Raymond VM
Jazyk:	angličtina
Zdroj:	The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2014 Aug; Vol. 99 (8), pp. E1482-6. Date of Electronic Publication: 2014 Apr 23.
DOI:	10.1210/jc.2013-3853
Abstrakt:	Context: Mutations in the genes encoding subunits of the succinate dehydrogenase complex cause hereditary paraganglioma syndromes. Although the phenotypes associated with the more commonly mutated genes, SDHB and SDHD, are well described, less is known about SDHC-associated paragangliomas. Objective: To describe functionality, penetrance, number of primary tumors, biological behavior, and location of paragangliomas associated with SDHC mutations. Design: Families with an SDHC mutation were identified through a large cancer genetics registry. A retrospective chart review was conducted with a focus on patient and tumor characteristics. In addition, clinical reports on SDHC-related paragangliomas were identified in the medical literature to further define the phenotype and compare findings. Setting: A cancer genetics clinic and registry at a tertiary referral center. Patients: Eight index patients with SDHC-related paraganglioma were identified. Results: Three of the eight index patients had mediastinal paraganglioma and four of the eight patients had more than one paraganglioma. Interestingly, the index patients were the only affected individuals in all families. When combining these index cases with reported cases in the medical literature, the mediastinum is the second most common location for SDHC-related paraganglioma (10% of all tumors), occurring in up to 13% of patients. Conclusions: Our findings suggest that thoracic paragangliomas are common in patients with SDHC mutations, and imaging of this area should be included in surveillance of mutation carriers. In addition, the absence of paragangliomas among at-risk relatives of SDHC mutation carriers suggests a less penetrant phenotype as compared to SDHB and SDHD mutations.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu