S135 – Head and Neck Paragangliomas and von Hippel-Lindau Disease

Abstract

Objectives To review our experience with head and neck paragangliomas (HNPs) in patients with von Hippel-Lindau disease (VHL). HNPs are rare tumors, 30% of which have been shown to be hereditary neoplasms. Since 2000,4 different paraganglioma syndromes (PGL 1–4) have been described. VHL is characterized by retinal angiomas, haemongioblastomas of the central nervous system, kidney tumors, pancreatic cysts, and pheochromocytomas. Only 4 cases of VHL patients with HNPs have been published in the international medical literature. We systematically reviewed our VHL registry for patients with HNPs. Methods In 1983 we founded a registry for VHL patients. Until 2008, 395 index cases could be registered. First-degree relatives were offered genetic screening as well. Results Three VHL patients presented with HNPs. One boy (mutation VHL 505 T>C) developed a metastatic pheochromocytoma at age 7. 8 years after treatment, he presented with a right-sided carotid body tumor. Another male patient was diagnosed with a tumor of the right carotid body at age 33 (VHL 404 T>A). Interestingly, there have been no other tumors so far. The third patient was diagnosed with a left carotid body tumor at age 33 (VHL 505 T>C). Currently, she has multiple haemangioblastomas of the spinal cord. Conclusions The 3 cases presented demonstrate the importance of awareness of HNPs as one of the manifestations in VHL. So far this rare association has found very little attention in international medical literature. We suggest that VHL patients should undergo a thorough otolaryngological examination of the head and neck.