A common pathway for genetic events leading to pheochromocytoma

Cancer Cell. 2005 Aug;8(2):91-3. doi: 10.1016/j.ccr.2005.07.012.

Abstract

Mutations in VHL, RET, NF1, SDHB, SDHC, and SDHD can give rise to pheochromocytoma/paraganglioma. These different genetic lesions may all act by decreasing the activity of a 2-oxoglutarate-dependent oxygenase, SM-20/EglN3/PHD3, resulting in reduced apoptosis of neural crest cells during development.

Publication types

  • Comment
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Gland Neoplasms / enzymology*
  • Adrenal Gland Neoplasms / genetics*
  • Apoptosis
  • Dioxygenases
  • Down-Regulation
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease
  • Humans
  • Hypoxia-Inducible Factor-Proline Dioxygenases
  • Mutation
  • Pheochromocytoma / enzymology*
  • Pheochromocytoma / genetics*
  • Procollagen-Proline Dioxygenase / genetics
  • Procollagen-Proline Dioxygenase / metabolism*

Substances

  • Dioxygenases
  • Procollagen-Proline Dioxygenase
  • EGLN3 protein, human
  • Hypoxia-Inducible Factor-Proline Dioxygenases