FAMILIAL PARAGANGLIOMAS OF THE HEAD AND NECK

Objective: It has been known for some time that paragangliomas of the head and neck may be familial. Recent evidence suggests genomic imprin ting is an important factor in the clinical development of these tumor s. In genomic imprinting the imprintable gene is transmitted in a mend elian manner, but expression of the gene is determined by the sex of t he transmitting parent. In the case of paragangliomas, the gene does n ot result in the development of tumors when maternally inherited. The purpose of this study was to determine if this hypothesis correctly pr edicted the inheritance pattern of familial paraganglioma in a large s eries of patients. Setting: A retrospective review of case records of the Mayo Clinic, Rochester, Minn, a tertiary referral center, was perf ormed for the years 1950 to 1992 to identify patients with familial pa ragangliomas of the head and neck. Patients: A total of 38 patients wi th familial paragangliomas of the head and neck were identified in nin e kindreds. Results: Carotid body tumors were the most common paragang liomas of the head and neck (34 cases). Glomus jugulare or glomus vaga le occurred in eight cases. In 16 (42%) of the patients there were mul tiple tumors. Surgical complications, primarily cranial nerve palsies, were more frequent for tumors larger than 5 cm in diameter. Conclusio ns: An autosomal dominant inheritance pattern could be shown for parag angliomas of the head and neck that was consistent with genomic imprin ting. It is recommended that all individuals in kindreds with paragang liomas be screened after the age of 16 years to detect early asymptoma tic tumors.