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Head and Neck Paragangliomas: An Update on the Molecular Classification, State-of-the-Art Imaging, and Management
Edward P Lin1, Bennett B Chin1, Lauren Fishbein1
1From the Departments of Imaging Sciences (E.P.L., S.E.) and Otolaryngology (S.N.), University of Rochester Medical Center, 601 Elmwood Ave, Box 648, Rochester, NY 14642; Departments of Radiology (B.B.C.) and Medicine (L.F.), University of Colorado School of Medicine, Denver, Colo; Department of Radiology, University of Michigan, Ann Arbor, Mich (T.M.); Eastern Radiologists, East Carolina University, Vidant Medical Center, Greenville, NC (S.P.M.); and Department of Radiology, Massachusetts General Hospital, Boston, Mass (S.P.M.).
Abstract:
Paragangliomas are neuroendocrine tumors that derive from paraganglia of the autonomic nervous system, with the majority of parasympathetic paragangliomas arising in the head and neck. More than one-third of all paragangliomas are hereditary, reflecting the strong genetic predisposition of these tumors. The molecular basis of paragangliomas has been investigated extensively in the past couple of decades, leading to the discovery of several molecular clusters and more than 20 well-characterized driver genes (somatic and hereditary), which are more than are known for any other endocrine tumor. Head and neck paragangliomas are largely related to the pseudohypoxia cluster and have been previously excluded from most molecular profiling studies. This review article introduces the molecular classification of paragangliomas, with a focus on head and neck paragangliomas, and discusses its impact on the management of these tumors. Genetic testing is now recommended for all patients with paragangliomas to provide screening and surveillance recommendations for patients and relatives. While CT and MRI provide excellent anatomic characterization of paragangliomas, gallium 68 tetraazacyclododecane tetraacetic acid-octreotate (ie, 68Ga-DOTATATE) has superior sensitivity and is recommended as first-line imaging in patients with head and neck paragangliomas with concern for multifocal and metastatic disease, patients with known multifocal and metastatic disease, and in candidates for targeted peptide-receptor therapy. Keywords: Molecular Imaging, MR Perfusion, MR Spectroscopy, Neuro-Oncology, PET/CT, SPECT/CT, Head/Neck, Genetic Defects © RSNA, 2022.
