Familial paraganglioma

Isik A., Erem C., Imamoglu M., Cinel A., Sari A., Maral G.

EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY, no.1, pp.23-31, 2006 (SCI-Expanded) identifier identifier identifier


Paragangliomas are unusual tumors that are sometimes familial. We treated a family who exhibited multiple head and neck paragangliomas (HNPGs) and pheochromocytomas. The purpose was to determine the clinical characteristics of paragangliomas with familial history and to define a better standardized proceeding in the management of these tumors. Patients diagnosed with head and neck paragangliomas and identified retrospectively through clinical otolaryngology practices were given a medical and family history questionnaire. We studied a family who exhibited familial paragangliomas. This relationship was examined by reviewing the medical records of family members with verified tumors, carrying out neck computed tomography or magnetic resonance imaging on their relatives to look for tumors that had been unrecognized in the past. All patients underwent a complete head and neck examination. The initial evaluation usually included CT and/or MRI. Computed tomography and magnetic resonance imaging contributed additional information about tumor extension. Angiography was performed in every patient with carotid body tumor, with one undergoing therapeutic embolization to reduce the tumor size. Eleven tumors were identified in four patients with a familial history. Familial disease was initially determined by pedigree analysis. Four patients with a median age of 31 years (range: 25-42) underwent surgery. Median follow-up was 5 years (range 2-14); carotid angiography provided essential mainstays for the definite diagnosis. All patients underwent successful surgical resection of the tumor after the appropriate preoperative preparation. There were no perioperative deaths or hemiplegia. Three patients had bilaterality carotid body paragangliomas. One patient had three paragangliomas, and two patients had bilateral carotid body paragangliomas associated with pheochromocytoma. Clinically functioning tumors and malignant tumors were not identified, and none of the patients died after surgery. During follow-up, none of the patients developed recurrence or metastatic disease. The carotid body paraganglioma (CBPG) and glomus vagale manifested as asymptomatic neck masses. The clinical pheochromocytomas typically present with uncontrolled hypertension. In conclusion, paragangliomas are rare, with multicentricity being more common in patients with a familial history. In patients with familial paragangliomas, high-resolution computed tomography and magnetic resonance imaging are recommended for early screening and contributed additional information about the tumor extension and definitive treatment. Early surgery is recommended to minimize major risks.