SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis

Fam Cancer. 2009;8(3):257-60. doi: 10.1007/s10689-009-9234-z. Epub 2009 Jan 29.

Abstract

Mutations in SDHB are one of the causes of hereditary paraganglioma syndrome. Germline mutations in SDHB predispose to the development of head and neck paragangliomas and phaeochromocytomas. Renal tumours are also increasingly being reported as component tumours in hereditary paragangliomatosis associated with mutations in SDHB. We present the first reported case of a family in whom an individual shown to carry a mutation in SDHB developed a renal oncocytoma. We review other reports of renal tumours associated with SDHB-associated hereditary paragangliomatosis and suggest that various histological subtypes of renal tumours are part of this condition. This observation indicates that SDHB-associated hereditary paragangliomatosis is unlike most tumour predisposition syndromes associated with the development of renal tumours which are usually associated with specific histological sub-types. The increasing recognition of the involvement of renal tumours in SDHB mutation carriers suggests that renal screening is likely to be valuable for these patients. SDHB mutations should also be considered in the context of genetic testing when renal tumours, regardless of histopathology, present in families with other tumours consistent hereditary paraganglioma syndrome.

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Aged
  • Case-Control Studies
  • Chromosomes, Human, Pair 1*
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Germ-Line Mutation*
  • Head and Neck Neoplasms / genetics
  • Humans
  • Iron-Sulfur Proteins / genetics*
  • Kidney Neoplasms / genetics
  • Male
  • Pedigree
  • Phenotype
  • Pheochromocytoma / genetics*
  • Retroperitoneal Neoplasms / genetics
  • Thyroid Neoplasms / genetics

Substances

  • Iron-Sulfur Proteins