Braun S, Riemann K, Pusch C M, Sotlar K, Pfister M, Kupka S
HNO-Universitätsklinik, Tübingen.
HNO. 2004 Jan;52(1):11-7. doi: 10.1007/s00106-003-0959-y.
Paragangliomas of the head and neck region are usually benign tumors that develop from chemoreceptors of paraganglionic origin in the majority of patients. These receptors play an important role in sensing and regulation of the blood CO(2) level. Genetic alterations in the mitochondrial enzyme complex II (SDH), which is involved in respiratory chain and citric acid cycle reactions, have been shown to lead to sporadic as well as familial cases of these tumors. The gene encoding the subunit SDHD shows mutations in up to 50% of these cases. In addition, loss of heterozygosity (LOH) was demonstrated in these tumor samples and has been shown to be connected with oncogenesis of paragangliomas. Thus, SDHD is the first known tumor suppressor gene encoding a mitochondrial protein. In this article we summarize the current state of knowledge concerning the development of paragangliomas.
头颈部副神经节瘤通常是良性肿瘤，在大多数患者中，它起源于副神经节化学感受器。这些感受器在感知和调节血液中二氧化碳水平方面发挥着重要作用。参与呼吸链和柠檬酸循环反应的线粒体酶复合物II（SDH）的基因改变已被证明会导致这些肿瘤的散发性和家族性病例。在这些病例中，高达50%的病例显示编码SDHD亚基的基因发生突变。此外，在这些肿瘤样本中证实了杂合性缺失（LOH），并且已表明其与副神经节瘤的肿瘤发生有关。因此，SDHD是第一个已知的编码线粒体蛋白的肿瘤抑制基因。在本文中，我们总结了关于副神经节瘤发生发展的当前知识状态。
