Paraganglioma: carotid body tumor.
Paraganglioma: carotid body tumor.
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DOI：
10.1007/s12105-009-0130-5
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发表时间：
2009-12
影响因子：
2.1
通讯作者：
Smith A
中科院分区：
文献类型：
--
作者：
Wieneke JA;Smith A
肾上腺外副神经节瘤是位于椎旁交感神经链和副交感神经链内的副神经节肿瘤。因此，副神经节瘤可以发生在这些神经管的任何地方，常见的发生部位包括腹部、腹膜后、胸部和纵隔以及各种头颈部部位，如颈静脉鼓膜、眼眶、鼻咽、喉、迷走体和颈动脉体部。最近的文献提出了一些副神经节瘤发生的分子基础，即胚系突变。已经确定了六个基因，它们被认为与嗜铬细胞瘤/副神经节瘤的发展有关。这些包括RET、VHL、NF1和SDH亚基SDHB、SDHC和SDHD。SDHD和SDHB突变在头颈部副神经节瘤中占很大比例。众所周知，副神经节瘤可能是遗传性的，可能是遗传综合征的一部分，如冯·希佩尔-林道综合征、I型神经纤维瘤病(冯·雷克林豪森病)、男性2A和男性2B。当这些更常见的综合征的特征不存在时，许多通常与上述胚系突变相关的家族性病例就不被识别。在头颈部，正常的副神经节与副交感神经系统相关，来自这些副交感神经部位的副神经节瘤占肾上腺外副神经节瘤的70%。最常见的部位是颈动脉小体。颈动脉体副神经节瘤发生在颈内动脉和颈外动脉的分叉处，具有典型的放射学特征。
Extra-adrenal paragangliomas are neoplasms of the paraganglia located within the paravertebral sympathetic and parasympathetic chains. Thus paragangliomas may arise anywhere along these tracts and common sites of occurrence include abdomen, retroperitoneum, chest and mediastinum and various head and neck locations such as jugulotympanic membrane, orbit, nasopharynx, larynx, vagal body and carotid body. Recent literature suggests a molecular basis for the development of some paragangliomas, ie germline mutations. Six genes have been identified and are thought to contribute to the development of pheochromocytoma/paraganglioma. These include RET, VHL, NF1 and SDH subunits SDHB, SDHC, and SDHD. SDHD and SDHB mutations account for a significant percentage of head and neck paragangliomas. It is well know that paragangliomas may be hereditary and may be part of genetic syndromes such as Von Hippel-Lindau syndrome, neurofibromatosis type I (von Recklinghausen disease), MEN 2A and MEN 2B. When features of these more commonly known syndromes are not present, many familial cases, often associated with the above mentioned germline mutations, go unrecognized.In the head and neck region the normal paraganglia are associated with the parasympathetic nervous system and paragangliomas arising from these parasympathetic sites account for up to 70% of extra-adrenal paragangliomas. The most common site is the carotid body. Carotid body paragangliomas arise at the bifurcation of the internal and external carotid arteries and have classic radiographic features.