den Brave Paul S, Balm Alfons J M, Balm Ron
Medisch Centrum Haaglanden, locatie Bronovo, afd. Heelkunde, Den Haag.
Ned Tijdschr Geneeskd. 2015;159:A9230.
A carotid body paraganglioma is a rare tumour of the neck, which occurs at the level of the carotid bifurcation.
A 52-year-old man was referred with a 10-year history of a swelling on the right side of his neck. Imaging revealed that this was a carotid body paraganglioma. The tumour showed no hormonal activity and there were no other paraganglioma localisations. We removed the tumour surgically, and histological examination confirmed the diagnosis of paraganglioma. Genetic investigation revealed that the patient was a carrier of a mutation in the succinate dehydrogenase complex, subunit D (SDHD) gene.
A paraganglioma of the carotid body is usually benign and slow-growing. It is familial in about 50% of cases, with a characteristic mutation in the SDHD-gene. Surgical removal is often the treatment of choice. If there is too high a risk of injury due to surgery, or in cases of inoperability, a "wait and see" policy with radiological follow-up is implemented. Diagnostics, treatment and follow-up demand a multidisciplinary approach.
颈动脉体副神经节瘤是一种罕见的颈部肿瘤，发生于颈动脉分叉水平。
一名52岁男性因右侧颈部肿物10年病史前来就诊。影像学检查显示这是一个颈动脉体副神经节瘤。该肿瘤无激素活性，且无其他副神经节瘤定位。我们通过手术切除了肿瘤，组织学检查证实为副神经节瘤。基因检测发现该患者是琥珀酸脱氢酶复合体D亚基（SDHD）基因突变携带者。
颈动脉体副神经节瘤通常为良性且生长缓慢。约50%的病例为家族性，具有SDHD基因特征性突变。手术切除通常是首选治疗方法。如果手术损伤风险过高或无法手术，可采取“观察等待”策略并进行影像学随访。诊断、治疗和随访需要多学科方法。
