副神经节瘤
SDHD公司
医学
SDHB系统
颈动脉体
颈动脉分叉
颈部肿块
放射科
嗜铬细胞瘤
种系突变
颈动脉
外科
病理
狭窄
突变
基因
化学
生物化学
作者
den Brave Ps,Balm Aj,Ron Balm
出处
期刊:PubMed
日期:2015-01-01
卷期号:159: A9230-A9230
摘要
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.
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