𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel SDHB mutation associated with hereditary head and neck paraganglioma

✍ Scribed by Brandon W. Peck; Thereasa A. Rich; Camilo Jimenez; Michael E. Kupferman

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
241 KB
Volume
121
Category
Article
ISSN
0023-852X

No coin nor oath required. For personal study only.

✦ Synopsis

Objectives/Hypothesis: To describe a novel germline mutation in the succinate dehydrogenase subunit B (SDHB) gene.

Study Design: Retrospective review. Methods: The medical records of a patient with bilateral carotid body paragangliomas were reviewed.

Results: A 35-year-old woman with a family history of neck masses presented with bilateral carotid body paragangliomas. DNA sequencing revealed a previously unreported conservative substitution (Leu111Val) mutation in the SDHB gene.

Conclusions: The Leu111Val germline mutation of SDHB is likely associated with a phenotype of head and neck paragangliomas, and carriers would benefit from periodic screening for sympathetic paragangliomas.

πŸ“œ SIMILAR VOLUMES

Hereditary carcinoma syndromes associate
Hereditary carcinoma syndromes associated with benign head and neck tumors
✍ Dr.; CPT Dale B. Smith; MAJ James E. Arnold; Dr.; MAJ Barbara Fox; Dr.; LTC Don πŸ“‚ Article πŸ“… 1989 πŸ› John Wiley and Sons 🌐 English βš– 466 KB

Hereditary forms of carcinoma may be associated with benign head and neck tumors. Many of these hereditary carcinoma syndromes present first to the otolaryngologist. Two unusual cases of Gardner's and Muir-Torre's syndromes illustrate the hereditary carcinoma syndromes associated with head and neck

A novel candidate region linked to devel
A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma
✍ Alberto CascΓ³n; Sergio Ruiz-Llorente; Sandra RodrΓ­guez-Perales; Emiliano Honrado πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 584 KB

## Abstract Although the histologic distinction between pheochromocytomas and head and neck paragangliomas is clear, little is known about the genetic differences between them. To date, various sets of genes have been found to be involved in inherited susceptibility to developing both tumor types,