文章：

头颈部副神经节瘤：机构经验综述

Head and Neck Paragangliomas: Overview of Institutional Experience

原文发布日期：16 April 2024

DOI: 10.3390/cancers16081523

类型: Article

开放获取: 是

英文摘要：

Head and neck paragangliomas (HNPGLs) are rare and have high rates of genetic mutations. We conducted a retrospective review of 187 patients with 296 PGLs diagnosed between 1974 and 2023. The mean age of diagnosis was 48.8 years (range 10 to 82) with 69.0% female and 26.5% patients with multiple PGLs. Among 119 patients undergoing genetic testing, 70 (58.8%) patients had mutations, with SDHB (30) and SDHD (26) being the most common. The rates of metastasis and recurrence were higher among patients with SDHB mutations or SDHD mutations associated with multiple PGLs. Metabolic evaluation showed elevated plasma dopamine levels were the most common derangements in HNPGL. MRI and CT were the most common anatomic imaging modalities and DOTATATE was the most common functional scan used in this cohort. Most patients (81.5%) received surgery as the primary definitive treatment, while 22.5% patients received radiation treatment, mostly as an adjuvant therapy or for surgically challenging or inoperable cases. Systemic treatment was rarely used in our cohort. Our single-center experience highlights the need for referral for genetic testing and metabolic evaluation and for a team-based approach to improve the clinical outcomes of patients with HNPGLs.

摘要翻译： 

头颈部副神经节瘤（HNPGLs）较为罕见且具有较高的基因突变率。本研究回顾性分析了1974年至2023年间确诊的187例患者（共296个副神经节瘤）。确诊平均年龄为48.8岁（范围10-82岁），其中女性占69.0%，多发性副神经节瘤患者占26.5%。在接受基因检测的119例患者中，70例（58.8%）存在基因突变，以SDHB（30例）和SDHD（26例）突变最为常见。SDHB突变或与多发性副神经节瘤相关的SDHD突变患者，其转移率和复发率更高。代谢评估显示血浆多巴胺水平升高是HNPGL最常见的代谢异常。MRI和CT是最常用的解剖成像方式，而DOTATATE是本队列中最常用的功能显像方法。多数患者（81.5%）接受手术作为主要根治性治疗，22.5%的患者接受放射治疗，主要作为辅助治疗或用于手术难度大或无法手术的病例。本队列中全身治疗应用较少。我们的单中心经验表明，需要加强对HNPGL患者的基因检测和代谢评估转诊，并采用多学科团队协作模式以改善患者临床结局。

原文链接：

Head and Neck Paragangliomas: Overview of Institutional Experience