Head and Neck Paraganglioma: Medical Assessment, Management, and Literature Update

Abstract

Head and neck paraganglioma (HNPGL) are rare, highly vascular; typically slow growing and mostly benign neoplasms arising from paraganglia cells. HNPGL cause morbidity via mass effect on adjacent structures (particularly the cranial nerves), invasion of the skull base and, rarely, catecholamine secretion with associated systemic effects. The last decade has seen significant progress in the understanding of HNPGL genetics, with pertinent implications for diagnostic assessment and management of patients and their relatives. The implicated genes code for three of the five subunits of mitochondrial enzyme succinate dehydrogenase (SDH); recent literature reports that approximately one third of all HNPGL are associated with SDH mutations—a prevalence significantly greater than traditionally thought. There are distinct phenotypical syndromes associated with mutations in each individual SDH subunit (SDHD, SDHB, SDHC, and SDHAF2). This article focuses on the clinical features of HNPGL, the implications of HNPGL genetics, and the current evidence relating to optimal identification, investigation, and management options in HNPGL, which are supported by reference to a personal series of 60 cases. HNPGL require a systematic and thorough assessment to appropriately guide management decisions, and a suggested algorithm is presented in this article. Recent developments are particularly pertinent to surgeons of multiple disciplines, including otolaryngology, neurosurgery, vascular, and general surgery.