Hereditary Head and Neck Paragangliomas

Abstract

Objective: Paragangliomas are rare neuroendocrine tumors derived from the extra-adrenal paraganglia of the autonomic nervous system. Little information has been accumulated describing the differences in clinical expression between hereditary versus nonhereditary paraganglia. We examined the differences in clinical characteristics, presenting symptoms, and tumor types of hereditary head and neck paragangliomas.

Method: A retrospective review of the medical records was performed in order to formulate a database of patients with head and neck paragangliomas. Clinical characteristics, tumor type and location, presentation, and genetic results of each patient were included. Hereditary paragangliomas were compared to the general database of head and neck paragangliomas.

Results: Eighty patients with the diagnosis of a head and neck paraganglioma were evaluated at the University of Utah during the years of 2000 to 2010. Thirteen of the 80 were confirmed to be hereditary paragangliomas through genetic testing or through family history. Patients with a known hereditary component presented earlier in life than those of the general paraganglioma population. Over half of the patients who presented under the age of 30 years were confirmed to be hereditary. The most common presenting symptom was a neck mass (54%). A genetic mutation was found in all those tested under the age of 30 years.

Conclusion: Our study evaluates a large population of hereditary paragangliomas. We found that patients who present at a younger age may be at an increased risk of possessing a genetic mutation. Further research will determine if genetic testing is necessary in all patients who present under the age of 30 years.