Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

Lancet. 2001 Jul 21;358(9277):210-1. doi: 10.1016/s0140-6736(01)05412-5.


The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features-eg, macrocephaly, lipomatosis, and vascular malformations-can be seen in all three syndromes. We examined PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified de-novo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Genes, Tumor Suppressor / genetics*
  • Germ-Line Mutation*
  • Hamartoma Syndrome, Multiple / genetics
  • Heterozygote
  • Humans
  • PTEN Phosphohydrolase
  • Phosphoric Monoester Hydrolases / genetics*
  • Proteus Syndrome / genetics*
  • Tumor Suppressor Proteins*


  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • PTEN protein, human