[Research advances in molecular biology of carotid body tumor]

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.