Recent insights into the molecular pathogenesis of pheochromocytoma and paraganglioma.

Abstract

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.

• Authors: Eijiro Nakamura, William G Kaelin Jr
• Journal: Endocrine pathology (Endocr Pathol) Vol. 17 Issue 2 Pg. 97-106 ( 2006) ISSN: 1046-3976 [Print] United States
• PMID: 17159241 (Publication Type: Journal Article, Review)

Chemical References

• Nerve Growth Factor
• Succinate Dehydrogenase

Topics

• Adrenal Gland Neoplasms (genetics)
• Apoptosis (genetics)
• Fetal Development (physiology)
• Genetic Predisposition to Disease
• Germ-Line Mutation
• Humans
• Nerve Growth Factor (metabolism)
• Paraganglioma (genetics)
• Pheochromocytoma (genetics)
• Succinate Dehydrogenase (genetics)