颈动脉体瘤分子生物学研究进展

Research advances in molecular biology of carotid body tumor

颈动脉体位于颈动脉分叉处,体积较小,在缺氧的急性适应过程中起着重要作用,是头颈部副神经节瘤最常见的发生部位。尽管大多数颈动脉体瘤生长缓慢,属良性病变,但由于其紧邻头颈部重要的动脉和神经,严重者仍可造成死亡。颈动脉体瘤的发生与遗传因素和慢性缺氧刺激有关。最新的研究认为,颈动脉体瘤的发生与线粒体呼吸链复合体Ⅱ上的亚单位SDHB、SDHC和SDHD的种系突变和11q13基因的位点突变有关。本文就目前有关颈动脉体瘤发生机制的分子生物学研究进展做一综述。

The carotid body （CB） is a highly specialized small organ located at the bifurcation of the common carotid artery in the neck and plays an important role in acute adaptation to hypoxia, which is the most common tumor site in head and neck paragangliomas. Although carotid body tumors （CBTs） are mostly slow-growing and benign, they can cause significant morbidity because of their proximity to major arteries and nerves in the head and neck. CBTs can be caused by a genetic predisposition and by chronic hypoxic stimulation. Currently, inactivating germline mutations in the mitochondrial complex II subunits SDHB, SDHC, and SDHD have been identified as genetic risk factors for CB tumors （CBTs）. Another locus at chromosome 11q13, identified by linkage analysis in a single family, may harbor a fourth susceptibility gene. This paper highlights the recent research advances in etiologic mechanism of molecular biological aspect of CBT. Supported by Shanghai Leading Academic Discipline Project （Grant No. Y0203）.