Recent insights into the molecular pathogenesis of pheochromocytoma and paraganglioma.
Pheochromocytomas and paragangliomas are rare tumors derived from chromaffin cells. These tumors can arise in the context of hereditary cancer syndromes such as von Hippel- Lindau disease, multiple endocrine neoplasia type 2, and neurofibromatosis 1. Recent studies indicate that germ line mutations of genes encoding specific succinate dehydrogenase (SDH) subunits also predispose individuals to pheochromocytomas and paragangliomas. This review focuses on the genetics of these tumors and suggests a possible link between familial pheochromocytomas/paraganglioma genes and control of neuronal apoptosis during embryological development.
Nakamura
Eijiro
E
Department of Urology, Graduate School of Medicine, Kyoto University.
Kaelin
William G
WG
D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D017209:Apoptosis / Q000235:genetics; D047109:Fetal Development / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D020932:Nerve Growth Factor / Q000378:metabolism; D010235:Paraganglioma / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics
D020932:Nerve Growth Factor; D013385:Succinate Dehydrogenase