Cass Nathan D, Schopper Melissa A, Lubin Jonathan A, Fishbein Lauren, Gubbels Samuel P
Department of Otolaryngology, University of Colorado School of Medicine, Aurora, CO, USA.
Department of Surgery, Maine Medical Center, Portland, ME, USA.
Ann Otol Rhinol Laryngol. 2020 Nov;129(11):1135-1143. doi: 10.1177/0003489420931540. Epub 2020 Jun 2.
Recommendations regarding head and neck paragangliomas (HNPGL) have undergone a fundamental reorientation in the last decade as a result of increased understanding of the genetic and pathophysiologic basis of these disorders.
We aim to provide an overview of HNPGL and recent discoveries regarding their molecular genetics, along with updated recommendations on workup, treatment, and surveillance, and their implications for otolaryngologists treating patients with these disorders.
susceptibility gene mutations, encoding subunits of the enzyme succinate dehydrogenase (SDH), give rise to the Hereditary Pheochromocytoma/Paraganglioma Syndromes. , and mutations each result in unique phenotypes with distinct penetrance and risk for variable tumor development as well as metastasis. Genetic and biochemical testing is recommended for every patient with HNPGL. Multifocal disease should be managed in multi-disciplinary fashion. Patients with mutations require frequent biochemical screening and whole-body imaging, as well as lifelong follow-up with an expert in hereditary pheochromocytoma and paraganglioma syndromes.
Otolaryngologists are likely to encounter patients with HNPGL. Keeping abreast of the latest recommendations, especially regarding genetic testing, workup for additional tumors, multi-disciplinary approach to care, and need for lifelong surveillance, will help otolaryngologists appropriately care for these patients.
由于对这些疾病的遗传和病理生理基础有了更多了解，过去十年中关于头颈部副神经节瘤（HNPGL）的建议发生了根本性的重新定位。
我们旨在概述HNPGL及其分子遗传学的最新发现，同时提供关于检查、治疗和监测的最新建议，以及它们对治疗这些疾病患者的耳鼻喉科医生的影响。
编码琥珀酸脱氢酶（SDH）亚基的易感基因突变会引发遗传性嗜铬细胞瘤/副神经节瘤综合征。 、 和 突变各自导致具有独特外显率以及不同肿瘤发生和转移风险的独特表型。建议对每位HNPGL患者进行基因和生化检测。多灶性疾病应以多学科方式进行管理。携带 突变的患者需要频繁进行生化筛查和全身成像，以及由遗传性嗜铬细胞瘤和副神经节瘤综合征专家进行终身随访。
耳鼻喉科医生很可能会遇到HNPGL患者。紧跟最新建议，特别是关于基因检测、其他肿瘤的检查、多学科护理方法以及终身监测的必要性，将有助于耳鼻喉科医生妥善护理这些患者。
