Department of Otorhinolaryngology & Head and Neck Surgery, Østfold Sykehus, Gralum, Norway.
Department of Otorhinolaryngology & Head and Neck Surgery, Oslo University Hospital, Rikshospitalet, Norway.
Acta Otolaryngol. 2021 Mar;141(3):303-308. doi: 10.1080/00016489.2020.1845397. Epub 2020 Dec 15.
Head and neck paragangliomas (HNPG) are rare and predominantly benign tumours, originating from the neuroendocrine paraganglionic system. A considerable proportion of HNPGs are hereditary, depending on the population.
AIMS/OBJECTIVES: The purpose of this study was to estimate the rate of hereditary HNPGs in a Scandinavian (Norwegian) population, report long-term experience with HNPGs and offer all patients diagnosed an updated follow-up, with emphasis on identifying hereditary HNPGs through genetic screening and multifocality by 18 F-2-fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT).
Our study was a partly retrospective and partly prospective cohort study. It included patients with HNPG diagnosed at Oslo University Hospital (OUH), Rikshospitalet between 1990 and 2017. The patients underwent genetic testing, F-FDG PET/CT and measurement of catecholamines and meta-nephrines in the plasma. All resection specimens and biopsies were subjected to histopathological review. The genetic testing protocol consisted of testing for mutations in the following genes; , , , and .
Sixty-three patients were included in the study with a median age of 49 years (range 12 - 80). Cranial nerve dysfunction was present upon diagnosis in 13%, and 14% had multifocal paraganglioma (PG) disease. Fifty-six patients (89% of all the patients) underwent genetic testing, and 29% of these had a PG related mutation. Seven of the eight patients (88%) with multifocal PGs who underwent genetic testing had a mutation. In two of the patients, the F-FDG PET/CT revealed unknown and subclinical multifocality.
This is the first study with systematic genetic workup and PET/CT imaging in Scandinavia of HNPG patients. The mutation rate was within the lower range reported in the literature with respect to HNPGs. Combining genetic testing and PET/CT imaging in the diagnostic workup of HNPGs is valuable.
头颈部副神经节瘤（HNPG）是一种罕见的、主要为良性的肿瘤，起源于神经内分泌副神经节系统。相当一部分 HNPG 是遗传性的，这取决于人群。
本研究旨在估计斯堪的纳维亚（挪威）人群中遗传性 HNPG 的发生率，报告 HNPG 的长期经验，并为所有诊断出的患者提供最新的随访，重点是通过遗传筛查和 18F-2-氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描（F-FDG PET/CT）检测多灶性来识别遗传性 HNPG。
我们的研究是一项部分回顾性和部分前瞻性队列研究。它包括 1990 年至 2017 年在奥斯陆大学医院（OUH）、Rikshospitalet 诊断为 HNPG 的患者。患者接受了基因检测、F-FDG PET/CT 和血浆儿茶酚胺和代谢肾素的测量。所有切除标本和活检均进行了组织病理学复查。基因检测方案包括以下基因的突变检测：、、、和。
本研究共纳入 63 例患者，中位年龄为 49 岁（范围 12-80 岁）。诊断时存在颅神经功能障碍的占 13%，14%的患者有多发性副神经节瘤（PG）疾病。56 例患者（所有患者的 89%）接受了基因检测，其中 29%的患者存在 PG 相关突变。8 例多发性 PG 患者中有 7 例（88%）接受了基因检测，其中 2 例 F-FDG PET/CT 显示出未知和亚临床多灶性。
这是斯堪的纳维亚首次对 HNPG 患者进行系统基因检测和 PET/CT 成像的研究。突变率与文献报道的 HNPG 较低范围一致。在 HNPG 的诊断工作中结合基因检测和 PET/CT 成像具有重要价值。
