Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx
- 1 March 2005
- journal article
- review article
- Published by Springer Science and Business Media LLC in Familial Cancer
- Vol. 4 (1), 17-23
- https://doi.org/10.1007/s10689-004-5740-1
Abstract
Pheochromocytoma are tumors derived from chromaffin cells that secrete catecholamines. These catecholamines may lead to increased blood pressure and even death. Historically, pheochromocytoma have been described as 10 tumor, i.e. about 10 were believed to be malignant, 10 were found to be extra-adrenal, and 10 were meant to be bilateral. Also, about 10 were considered to be hereditary. In these instances, they were most often part of either the multiple endocrine neoplasia type 2 (MEN 2) syndrome or the von Hippel–Lindau (VHL) disease. The genes (RET and VHL) involved have been known for several years and their function is the subject of ongoing investigation. Very recently, several genes (SDHD, SDHB, and SDHC) that belong to the mitochondrial complex II have been identified to be involved in the so-called pheochromocytoma–paraganglioma syndrome. Only SDHD and SDHB have so far been implicated in the pathogenesis of pheochromocytoma.Keywords
This publication has 61 references indexed in Scilit:
- Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau proteinCancer Cell, 2002
- Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RETJournal of Medical Genetics, 2001
- The GDNF family ligands and receptors — implications for neural developmentCurrent Opinion in Neurobiology, 2000
- Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinomaOncogene, 1999
- Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteinesOncogene, 1998
- GFRα-4 and the tyrosine kinase Ret form a functional receptor complex for persephinCurrent Biology, 1998
- RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2Oncogene, 1997
- Direct Association between the Ret Receptor Tyrosine Kinase and the Src Homology 2-containing Adapter Protein Grb7Published by Elsevier BV ,1996
- Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2ANature, 1993
- Identification of the von Hippel-Lindau Disease Tumor Suppressor GeneScience, 1993