Etiopathogenesis and clinical presentation of carotid body tumors.
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. The most common diseased state of the carotid body is its enlargement (i.e., the CB paraganglioma), which can be caused by a genetic predisposition (hereditary paraganglioma, PGL) and by chronic hypoxic stimulation. The CB is the most common tumor site in head and neck paragangliomas. 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. Although 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. Here, we review the etiological factors implicated in the development of CBTs and provide information pertaining to their clinical presentation. Although CBTs are rare, they have the potential to provide unique insights for tumorigenesis and oxygen sensing and signaling mechanisms.
Baysal
Bora E
BE
Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA. baysalbe@msx.upmc.edu
Myers
Eugene N
EN
D002345:Carotid Body Tumor / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology*; D042963:Electron Transport Complex II; D020022:Genetic Predisposition to Disease; D006801:Humans; D008928:Mitochondria / Q000201:enzymology; D009097:Multienzyme Complexes / Q000235:genetics; D010088:Oxidoreductases / Q000235:genetics; D010100:Oxygen / Q000378:metabolism; D010235:Paraganglioma / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology*; D013385:Succinate Dehydrogenase / Q000235:genetics
D009097:Multienzyme Complexes; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase; D010100:Oxygen