The malignant potential of a succinate dehydrogenase subunit B germline mutation

J Endocrinol Invest. 2006 Apr;29(4):350-2. doi: 10.1007/BF03344107.

Abstract

Familial catecholamine secreting tumors have been associated with multiple endocrine neoplasia type 2, Von Hippel-Lindau disease and neurofibromatosis type 1. In the last years, mutations of genes encoding subunits B, C and D of the succinate dehydrogenase have been discovered as other causes of pheochromocytomas and paragangliomas. We diagnosed a malignant retroperitoneal paraganglioma in a 64-yr-old man with bone metastasis in 2001. Two years later a retroperitoneal benign paraganglioma was found and resected in his 32-yr-old daughter. Thus we diagnosed in this family a paraganglioma syndrome. We performed molecular genetic analyses of the genes SDHB, SDHC, and SDHD. We detected in the SDHB gene the mutation SDHB c. 558-3 C> G affecting the splice site of exon 5. In a second daughter the mutation was also detected, thorough clinical investigation revealed normal results. We conclude that the SDHB mutation predisposes to abdominal extra-adrenal and potential malignant pheochromocytoma with incomplete penetrance.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Family Health
  • Female
  • Germ-Line Mutation*
  • Humans
  • Iron-Sulfur Proteins / genetics*
  • Male
  • Middle Aged
  • Paraganglioma / genetics*
  • Protein Subunits / genetics*
  • Retroperitoneal Neoplasms / genetics*
  • Succinate Dehydrogenase / genetics*

Substances

  • Iron-Sulfur Proteins
  • Protein Subunits
  • SDHB protein, human
  • Succinate Dehydrogenase