Nielsen Signe Bergliot, Sunde Lone, Bundgaard Troels
Katrinebergvej 61, 1. tv., 8200 Aarhus N.
Ugeskr Laeger. 2014 Dec 22;176(52).
Head and neck paragangliomas (HNPGs) are rare tumours of neural crest origin that are benign in the majority of cases. In this article HNPGs are outlined with emphasis on genetic predisposition, diagnostics and counselling. The literature on HNPGs identified using PubMed is reviewed. Several susceptibility genes have been identified and hereditary mutations are detectable in 30% of the patients with HNPGs. Genetic analyses, guided by the family history and clinical findings, should be offered to all patients with HNPGs and at risk relatives.
头颈部副神经节瘤（HNPGs）是起源于神经嵴的罕见肿瘤，大多数情况下为良性。本文概述了HNPGs，重点介绍了遗传易感性、诊断和咨询。对使用PubMed检索到的关于HNPGs的文献进行了综述。已鉴定出几种易感基因，30%的HNPGs患者可检测到遗传性突变。应向所有HNPGs患者及其有风险的亲属提供在家族史和临床发现指导下的基因分析。
