From 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.).
Radiol Imaging Cancer. 2022 May;4(3):e210088. doi: 10.1148/rycan.210088.
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, Ga-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. Molecular Imaging, MR Perfusion, MR Spectroscopy, Neuro-Oncology, PET/CT, SPECT/CT, Head/Neck, Genetic Defects © RSNA, 2022.
副神经节瘤是源自自主神经系统副神经节的神经内分泌肿瘤，大多数副交感神经副神经节瘤发生在头颈部。超过三分之一的副神经节瘤是遗传性的，反映了这些肿瘤的强烈遗传倾向。在过去的几十年中，副神经节瘤的分子基础得到了广泛的研究，导致发现了几个分子簇和 20 多个特征明确的驱动基因（体细胞和遗传性），这比任何其他内分泌肿瘤都多。头颈部副神经节瘤主要与假缺氧簇有关，以前已从大多数分子分析研究中排除在外。本文介绍了副神经节瘤的分子分类，重点介绍了头颈部副神经节瘤，并讨论了其对这些肿瘤管理的影响。现在建议对所有副神经节瘤患者进行基因检测，为患者和亲属提供筛查和监测建议。虽然 CT 和 MRI 对头颈部副神经节瘤的解剖特征提供了极好的描述，但镓 68 四氮杂环十二烷四乙酸-octreotate（即 Ga-DOTATATE）具有更高的敏感性，被推荐用于怀疑多灶性和转移性疾病、已知多灶性和转移性疾病的头颈部副神经节瘤患者，以及候选靶向肽受体治疗的患者作为一线成像方法。分子成像、MR 灌注、MR 光谱、神经肿瘤学、PET/CT、SPECT/CT、头颈部、遗传缺陷 ©RSNA，2022 年。
